P49903 · SPS1_HUMAN

  • Protein
    Selenide, water dikinase 1
  • Gene
    SEPHS1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

139250100150200250300350
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV592581953T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs18338836554R>QgnomAD
COSV592599975E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV59256922
COSV59258073
rs1274393616
6S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
COSV59258073
rs1274393616
6S>Fcosmic curated
gnomAD
rs14685049326S>TgnomAD
rs7817157139P>LVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV59260140
rs146099433
9P>Scosmic curated
Ensembl
COSV10052568311S>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs74745115811S>NExAC
gnomAD
rs76254744912Y>HExAC
gnomAD
rs76254744912Y>NExAC
gnomAD
TCGA novel13E>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV5925732613E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs144031743115D>GgnomAD
rs183388291915D>NTOPMed
rs183388274216K>REnsembl
rs183388268917S>RTOPMed
rs145153518119R>QgnomAD
COSV59257697
rs1327907950
19R>Wcosmic curated
gnomAD
TCGA novel23F>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs130621321023F>YTOPMed
gnomAD
rs213070174428G>DEnsembl
COSV5925711229T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs141072121229T>RTOPMed
COSV108167523
rs1833881920
30G>Ccosmic curated
Ensembl
COSV5925801730G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5926062331C>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs128286728431C>GTOPMed
rs119258152734P>SgnomAD
TCGA novel35Q>P
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs183388154637V>IEnsembl
COSV5925965140K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs76761783541L>FExAC
gnomAD
rs75140681143E>AExAC
gnomAD
TCGA novel43E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs121699956043E>QgnomAD
COSV10052592044S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs76417775144S>YExAC
gnomAD
rs89819524549H>DgnomAD
rs183388082849H>REnsembl
rs138053819050F>LgnomAD
COSV59258518
COSV59259342
51Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs183388068551Q>EEnsembl
rs77548587152E>DExAC
TOPMed
gnomAD
rs136120740852E>KgnomAD
rs143268307253D>VgnomAD
COSV5926059454E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs148309205954E>QTOPMed
gnomAD
rs183388023455Q>RTOPMed
rs158855120657L>REnsembl
rs158855119958G>RTOPMed
rs116773525360V>FgnomAD
COSV59259066
rs1167735253
60V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
rs89225489061M>TTOPMed
rs142737142262P>SgnomAD
rs137245920763R>GTOPMed
rs77151120764L>FExAC
rs76540545566I>MExAC
gnomAD
COSV59258311
rs1833711848
67G>Ecosmic curated
Ensembl
COSV59257560
rs535526745
68M>Icosmic curated
ExAC
TOPMed
gnomAD
rs183371177268M>VTOPMed
TCGA novel69D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs156445157572V>ITOPMed
gnomAD
COSV5925697874P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs145505126874P>REnsembl
COSV5926083077H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs75385784477H>YExAC
gnomAD
rs76073212678G>SExAC
gnomAD
rs127252639483V>IgnomAD
rs124108243786T>ATOPMed
rs76795649289I>VExAC
gnomAD
COSV100525729
rs1564451521
91P>Lcosmic curated
Ensembl
rs77488387492I>MExAC
TOPMed
gnomAD
COSV59260573
rs769518585
rs769518585,COSV59260573
93V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV105233901
rs776217380
95D>Ncosmic curated
ExAC
TOPMed
gnomAD
rs77621738095D>YExAC
TOPMed
gnomAD
rs139089920297Y>FTOPMed
gnomAD
COSV5925790099M>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1402240125101R>STOPMed
gnomAD
rs1833633330102I>MEnsembl
rs1474740428103A>TgnomAD
COSV100525807
rs752102842
103A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs542605530105A>V1000Genomes
ExAC
gnomAD
COSV59260785
rs1271689318
106N>Scosmic curated
gnomAD
TCGA novel108L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1280600680111L>VgnomAD
COSV59259145
rs1314602706
112Y>Ccosmic curated
TOPMed
rs1833631976113A>SEnsembl
rs2130677306114M>TEnsembl
rs372858494114M>VESP
gnomAD
rs1833631633115G>AEnsembl
rs200835015117T>M1000Genomes
ExAC
TOPMed
gnomAD
rs774247442120D>EExAC
TOPMed
gnomAD
rs1833630563126L>FTOPMed
rs773953901126L>PEnsembl
rs1308125850128V>ITOPMed
rs769996817130N>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs746078177131K>NExAC
gnomAD
TCGA novel131K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV59260810133T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV59259782
rs1468296697
134D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV59259241137R>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1833547817137R>MEnsembl
rs966970698141M>VEnsembl
rs747037286142P>LExAC
TOPMed
gnomAD
TCGA novel144I>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs182887196145I>V1000Genomes
ExAC
TOPMed
gnomAD
rs758874151146Q>RExAC
gnomAD
rs373442320147G>AESP
TOPMed
COSV59258173147G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1379780114150D>HTOPMed
gnomAD
COSV59260046
rs149225659
151A>TVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel153E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs755275432155A>GExAC
TOPMed
gnomAD
rs1833546291155A>TTOPMed
gnomAD
rs1833545958156G>EEnsembl
COSV59258057
rs756922006
158S>Fcosmic curated
ExAC
TOPMed
gnomAD
COSV59257619
COSV59258057
158S>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs150474037159V>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs775272148162G>SExAC
TOPMed
gnomAD
COSV59260216
rs1172500826
167N>Tcosmic curated
gnomAD
rs1833544266168P>S1000Genomes
TOPMed
TCGA novel169W>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1833544188171V>IEnsembl
COSV100525868
COSV100525992
172L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100526030177T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs773637313177T>NExAC
gnomAD
rs773637313177T>SExAC
gnomAD
rs755539311180C>GExAC
TOPMed
gnomAD
rs1312818818183N>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1233717375183N>YgnomAD
COSV59259975184E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV59259975184E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1303388956185F>LgnomAD
rs1833542599185F>YEnsembl
rs886332812187M>TEnsembl
rs770128438190N>SExAC
TOPMed
gnomAD
COSV59257147
rs1258469101
196V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs1833413084197L>VEnsembl
COSV59261134
rs1480331383
202P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs1332506870208A>VgnomAD
rs1833412520209V>LEnsembl
rs1833412455210A>SgnomAD
rs778490277211V>GExAC
gnomAD
TCGA novel214W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs754602419215L>QExAC
gnomAD
rs1833412088216D>GTOPMed
rs756142199218P>LExAC
gnomAD
COSV59257823219E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV100526027221W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs925487659222N>STOPMed
gnomAD
rs1208158290224I>VgnomAD
rs1234611315235L>VgnomAD
rs760357700236A>DEnsembl
rs1333276169236A>SgnomAD
rs914061314237Y>CTOPMed
gnomAD
rs945563730237Y>NEnsembl
rs757062437240A>GExAC
gnomAD
COSV59259315
rs757062437
240A>Vcosmic curated
ExAC
gnomAD
rs986930410242M>IgnomAD
rs764345721242M>LExAC
TOPMed
gnomAD
rs1432999081244M>TTOPMed
gnomAD
COSV59259083
rs955621821
245A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs1833367153246R>SEnsembl
rs1173170590247L>PgnomAD
rs1371222947248N>DgnomAD
TCGA novel250T>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TCGA novel253G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs745416609254L>FExAC
TOPMed
gnomAD
rs745416609254L>VExAC
TOPMed
gnomAD
rs781150779255M>TExAC
TOPMed
gnomAD
rs1833160608256H>QEnsembl
rs1833160676256H>RTOPMed
TCGA novel256H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV59259029
rs1194827024
257T>Mcosmic curated
TOPMed
rs777553816259N>SExAC
gnomAD
COSV108167518
rs1162752688
260A>Scosmic curated
TOPMed
rs1588532667261H>PEnsembl
COSV59257294
COSV59259817
262A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1164623526263A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
COSV100525942265D>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1468213474265D>GgnomAD
rs1237033461266I>LTOPMed
gnomAD
rs1237033461266I>VTOPMed
gnomAD
COSV59259173267T>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV59259173
rs779155992
267T>Mcosmic curated
ExAC
gnomAD
TCGA novel267-273TG>missing
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs370831022269F>LESP
TOPMed
gnomAD
rs2131687413270G>EEnsembl
COSV59259699
rs2131687420
270G>Rcosmic curated
Ensembl
rs753897686272L>SExAC
gnomAD
rs753897686272L>WExAC
gnomAD
rs1833159030273G>VgnomAD
rs1833158659275A>GTOPMed
gnomAD
rs1300226752275A>TTOPMed
COSV100525944
rs1833158659
275A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs762321273277N>SExAC
TOPMed
gnomAD
rs1259633467280K>REnsembl
rs769368773281Q>RExAC
TOPMed
gnomAD
rs759043625284N>KExAC
TOPMed
gnomAD
rs767360719284N>SEnsembl
rs1474459084284N>YgnomAD
rs373971793285E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV100525982
rs151205320
287S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
dbSNP
gnomAD
rs1833157486288F>CTOPMed
rs1833157336289V>ITOPMed
rs2131687185294P>LEnsembl
TCGA novel296L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs148657465296L>VESP
ExAC
TOPMed
gnomAD
rs1361407515309M>ITOPMed
gnomAD
rs1217496940309M>LgnomAD
rs375854945309M>TESP
ExAC
TOPMed
gnomAD
rs762235072310F>LExAC
TOPMed
gnomAD
COSV59261304
rs144150402
311G>SVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel312L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs764888887313M>TExAC
gnomAD
COSV105233905
rs1368139587
313M>Vcosmic curated
TOPMed
gnomAD
rs1381714018314H>YTOPMed
gnomAD
rs892589418315G>AEnsembl
rs776415520316T>SExAC
TOPMed
gnomAD
COSV100525700
rs1298410502
rs1298410502,COSV100525700
318P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs760228317320T>IExAC
gnomAD
rs1174666851321S>*gnomAD
rs1272344983323G>CTOPMed
gnomAD
rs1272344983323G>STOPMed
gnomAD
COSV59259297
rs1833032660
330R>Hcosmic curated
TOPMed
COSV100526049
COSV59259099
331E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1293236433335R>QgnomAD
rs1389025702335R>WgnomAD
TCGA novel337C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1047516977339E>DEnsembl
COSV59257243
COSV59260027
339E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV59257243
COSV59260027
339E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs765968705340I>LExAC
gnomAD
rs755779249340I>TExAC
gnomAD
rs749867055343P>HExAC
gnomAD
rs190470029345Y>C1000Genomes
COSV100526058345Y>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs761370935348G>SExAC
TOPMed
gnomAD
rs2131679194349H>YEnsembl
rs1833031353351A>PTOPMed
rs1299613623359K>NTOPMed
gnomAD
rs1802843361N>KEnsembl
rs141674998361N>SESP
ExAC
TOPMed
gnomAD
rs555055285362R>C1000Genomes
ExAC
gnomAD
COSV59257665
rs1833030490
362R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs1282359571363T>ITOPMed
TCGA novel364A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1588529302369K>NEnsembl
RCV002260709
rs2131679103
371R>GLikely pathogenic (ClinVar)ClinVar
Ensembl
dbSNP
COSV100526011
rs1833029885
371R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
COSV59260272
rs1215326914
374E>Kcosmic curated
gnomAD
COSV59258988
rs777054688
376A>Tcosmic curated
ExAC
TOPMed
gnomAD
rs771117192376A>VExAC
gnomAD
rs960274224377P>RTOPMed
gnomAD
rs1833029001379V>GEnsembl
rs1387669773380A>STOPMed
gnomAD
COSV100525789380A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1347665387381T>ATOPMed
gnomAD
rs778103191385N>HExAC
TOPMed
gnomAD
rs1463885235385N>TgnomAD
COSV59258680386P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1419246556388P>LTOPMed
gnomAD
rs1367263388388P>STOPMed
COSV59259417
rs772657582
389G>Rcosmic curated
ExAC
gnomAD
rs1464499565389G>VgnomAD
rs1387249288390A>PTOPMed
gnomAD
TCGA novel390A>P
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs1833027529390A>VEnsembl
COSV100525653392S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp