Q9BTX3 · TM208_HUMAN

  • Protein
    Transmembrane protein 208
  • Gene
    TMEM208
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

117320406080100120140160
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV99263934
rs1224404519
2A>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
rs7576305273P>SExAC
TOPMed
gnomAD
rs11795555874K>EgnomAD
rs20340822665G>DgnomAD
rs21422504755G>REnsembl
rs20340825096K>EEnsembl
rs20340826146K>RTOPMed
TCGA novel8G>A
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs9868044788G>REnsembl
rs20340829869T>ATOPMed
gnomAD
rs11603918269T>MTOPMed
gnomAD
rs203408327710R>GTOPMed
rs78006363113K>QExAC
TOPMed
gnomAD
rs133890938913K>RgnomAD
rs214225054914Q>*Ensembl
rs76879672415I>VExAC
gnomAD
TCGA novel15-21IF>missing
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs130109495816F>LTOPMed
gnomAD
rs137545713116F>LgnomAD
rs77460718317E>DExAC
TOPMed
gnomAD
COSV5076222717E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV106053677
rs201846682
18E>Qcosmic curated
1000Genomes
rs203408441619N>HEnsembl
rs37626952320R>GESP
ExAC
TOPMed
gnomAD
TCGA novel21E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77671292024K>RExAC
gnomAD
TCGA novel25F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
VAR_089709
rs905460688
27L>P
found in a child with developmental delay, skeletal abnormalities, multiple hair whorls, cardiac and neurological issues; uncertain significance; partially rescues the lethality in the fruit fly model; no effect on localization to the endoplasmic reticulum membrane (UniProt)
Variant of uncertain significance (UniProt)UniProt
TOPMed
gnomAD
rs75948891128R>QVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs116359404029I>LTOPMed
gnomAD
rs76486146529I>SExAC
gnomAD
rs77490384330I>LExAC
gnomAD
rs76250357530I>TExAC
gnomAD
rs76371434631L>MExAC
gnomAD
rs117897348432G>RgnomAD
rs76781527933A>DExAC
gnomAD
rs75756902533A>PExAC
TOPMed
gnomAD
rs75756902533A>TExAC
TOPMed
gnomAD
COSV99264470
rs767815279
rs767815279,COSV99264470
33A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs203408638634N>STOPMed
rs75436240235A>TExAC
gnomAD
rs75501576635A>VExAC
gnomAD
rs203410605336I>TgnomAD
COSV9926394337Y>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV50768530
rs2034106349
41T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs203410672142L>FTOPMed
rs124408640043V>AgnomAD
rs203410704844F>LTOPMed
gnomAD
rs124947331144F>STOPMed
gnomAD
rs203410704844F>VTOPMed
gnomAD
rs104511962845F>LgnomAD
rs104511962845F>VgnomAD
rs75865324946Y>SExAC
TOPMed
gnomAD
rs144644657447S>LTOPMed
gnomAD
rs203410763348S>TTOPMed
COSV9926459651F>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs74571587451F>SExAC
rs89828613754W>RTOPMed
rs77986266954W>SExAC
gnomAD
rs125001746859F>VTOPMed
rs74921132860S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
dbSNP
gnomAD
rs77984766560S>RExAC
gnomAD
rs129067462663V>AgnomAD
rs196240958763V>MgnomAD
rs76867524464Y>FExAC
TOPMed
gnomAD
rs214225238665G>EEnsembl
rs77869812566A>VExAC
gnomAD
rs214225241867S>REnsembl
rs156737915767S>TEnsembl
rs37422946768Y>HESP
ExAC
TOPMed
gnomAD
COSV50761077
rs367799210
69H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
TOPMed
dbSNP
TCGA novel70S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs136822899970S>FTOPMed
gnomAD
rs77285846170S>PExAC
TOPMed
gnomAD
rs74660884471M>LExAC
TOPMed
gnomAD
rs74660884471M>VExAC
TOPMed
gnomAD
COSV107248159
rs771224504
73S>Lcosmic curated
ExAC
TOPMed
gnomAD
rs115662913774M>IgnomAD
rs75978823174M>TExAC
gnomAD
rs143097450475A>GgnomAD
rs129793966775A>PgnomAD
COSV50758608
rs200755290
76R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs77613548676R>QExAC
TOPMed
gnomAD
rs203411561377A>TTOPMed
rs124166494578A>STOPMed
gnomAD
rs124166494578A>TTOPMed
gnomAD
rs76312805978A>VExAC
gnomAD
rs75745818581E>DExAC
gnomAD
COSV5077077581E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs76760013982D>EExAC
gnomAD
TCGA novel82D>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
VAR_039958
rs17851038
82D>Y
UniProt
Ensembl
dbSNP
rs123422211784A>SgnomAD
rs203411679885L>PEnsembl
rs75472043786M>RExAC
TOPMed
gnomAD
rs75472043786M>TExAC
TOPMed
gnomAD
rs214225265686M>VEnsembl
rs120732097687D>GgnomAD
rs203411716187D>NEnsembl
rs77889191190M>VExAC
gnomAD
rs93885504491D>GEnsembl
rs203411751691D>NTOPMed
rs203411771593N>SgnomAD
rs74801514094M>VExAC
TOPMed
gnomAD
rs203411799995E>QgnomAD
rs119768838396Q>*TOPMed
gnomAD
rs203411847797G>STOPMed
rs99298303698M>TVariant of uncertain significance (Ensembl)Ensembl
rs752655909100E>DExAC
TOPMed
gnomAD
rs1361721236100E>QTOPMed
rs2034127380101H>QTOPMed
rs1263400798101H>YTOPMed
gnomAD
COSV105095454
rs2034127481
102L>Fcosmic curated
TOPMed
VAR_053933
rs11553801
102L>PUniProt
Ensembl
dbSNP
rs1260793713105V>GTOPMed
gnomAD
COSV99264566106I>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TCGA novel106I>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1246930548108L>PTOPMed
gnomAD
rs1646702469109T>AEnsembl
rs1318983736109T>ITOPMed
TCGA novel110A>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1183053916111I>VgnomAD
rs1164585898112V>AgnomAD
COSV108045174
rs568122136
112V>Mcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs2034128580113Q>*TOPMed
rs1459057112113Q>RgnomAD
rs372965773114V>LESP
ExAC
TOPMed
gnomAD
rs372965773114V>MESP
ExAC
TOPMed
gnomAD
rs1388122974115L>FgnomAD
rs1397798875119S>CTOPMed
gnomAD
COSV99263853120L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs780524297121Y>CExAC
TOPMed
gnomAD
rs780524297121Y>SExAC
TOPMed
gnomAD
rs1597310829124S>AEnsembl
rs918067548124S>CTOPMed
rs918067548124S>FTOPMed
rs1310400294126W>*gnomAD
rs2034130347127L>RTOPMed
rs1330913705128L>MgnomAD
rs1271250428131G>STOPMed
gnomAD
rs761613459132R>QExAC
TOPMed
gnomAD
rs751537208132R>WExAC
TOPMed
gnomAD
rs2034136193133A>STOPMed
gnomAD
COSV50759957
rs2034136193
133A>Tcosmic curated
TOPMed
gnomAD
rs767456502134L>FExAC
gnomAD
COSV99264073134L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs2034136864135Y>HEnsembl
rs1304791713135Y>SEnsembl
rs755668492136L>FExAC
TOPMed
gnomAD
COSV99264112137L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1209443579137L>PgnomAD
rs766197117139V>LExAC
gnomAD
rs2034137812144P>LTOPMed
rs779101020144P>SExAC
gnomAD
rs748723849145W>GVariant of uncertain significance (Ensembl)ExAC
gnomAD
TCGA novel146F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs2034138221147T>IEnsembl
rs2034138402148A>TTOPMed
rs1345015872149D>ETOPMed
gnomAD
rs758870713150S>GExAC
TOPMed
gnomAD
rs1274426940150S>NgnomAD
rs2034138790150S>REnsembl
rs2034138974152T>NEnsembl
rs747149978153P>LExAC
TOPMed
gnomAD
rs1445515474155P>TTOPMed
gnomAD
rs1477786940156E>AgnomAD
rs770995133156E>KExAC
TOPMed
gnomAD
rs770995133156E>QExAC
TOPMed
gnomAD
rs1439788493157H>NTOPMed
rs2034139850158N>STOPMed
rs1335003881159E>GTOPMed
gnomAD
rs1303501511160K>RTOPMed
COSV99263884
rs374909823
161R>Qcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367680134161R>WESP
ExAC
TOPMed
gnomAD
rs1167859116162Q>*gnomAD
rs768526166163R>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs774052394163R>HVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV50768789
rs1046702818
164R>*cosmic curated
TOPMed
gnomAD
rs761643750164R>QExAC
TOPMed
gnomAD
rs1438243213165Q>*TOPMed
gnomAD
rs1438243213165Q>KTOPMed
gnomAD
rs1597311381166E>GEnsembl
rs1156396745166E>QTOPMed
rs368458522167R>QVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs773193944167R>WExAC
TOPMed
gnomAD
rs765933541168R>GExAC
TOPMed
gnomAD
rs753569766168R>QExAC
TOPMed
gnomAD
rs765933541168R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs1451313894170M>IgnomAD
rs1291016849170M>TgnomAD
rs754641070170M>VExAC
gnomAD
rs199532825172R>GESP
ExAC
TOPMed
gnomAD
COSV50773342
rs762312364
172R>Qcosmic curated
ExAC
TOPMed
gnomAD
rs199532825172R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2142254129173L>VEnsembl
rs1417783083174*>QTOPMed
gnomAD
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