Q5TA82 · LCE2D_HUMAN

  • Protein
    Late cornified envelope protein 2D
  • Gene
    LCE2D
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

1110102030405060708090100110
MSCQQNQQQCQPPPKCPPKCTPKCPPKCPPKCPPQCPAPCSPAVSSCCGPSSGSCCGPSSGGCCSSGGGGCCLSHHRPRLFHRRRHQSPDCCESEPSGASGCCHSSGGCC
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7799610053C>*ExAC
gnomAD
rs15578010433C>GEnsembl
rs7471384955Q>EExAC
TOPMed
gnomAD
rs7657915846N>HEnsembl
rs12097534196N>KgnomAD
rs7695633966N>SExAC
TOPMed
gnomAD
rs7732897697Q>KExAC
gnomAD
rs8890020497Q>RTOPMed
gnomAD
rs11740705628Q>HTOPMed
rs7493063959Q>EExAC
rs77083757710C>WExAC
gnomAD
rs164848956710C>YgnomAD
rs123758674511Q>HTOPMed
gnomAD
rs157106484311Q>KEnsembl
TCGA novel11Q>S
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs77433641312P>AExAC
gnomAD
rs75908076412P>HExAC
TOPMed
gnomAD
TCGA novel
rs1424249773
13P>L
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
TOPMed
gnomAD
rs164849023413P>STOPMed
rs37195580314P>SESP
ExAC
gnomAD
rs119464303815K>*TOPMed
rs14106770915K>N1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs120064629517P>LTOPMed
gnomAD
COSV64228979
rs537040687
rs537040687,COSV64228979
17P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV64228820
COSV64228862
rs754335373
18P>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
COSV64228820
COSV64228820,COSV64228862
COSV64228862
18P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV6422881618P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs164849277719K>REnsembl
rs76236295420C>YExAC
TOPMed
gnomAD
rs75082314721T>AExAC
gnomAD
rs76851161422P>AExAC
TOPMed
gnomAD
rs75152977522P>RExAC
TOPMed
gnomAD
COSV10090956723K>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs164849325924C>YTOPMed
gnomAD
rs131913562725P>LTOPMed
gnomAD
rs131913562725P>QTOPMed
gnomAD
rs126296225726P>LTOPMed
gnomAD
rs126296225726P>RTOPMed
gnomAD
COSV100909541
COSV100909541,COSV64229161
COSV64229161
27K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs122527480727K>RTOPMed
TCGA novel28C>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs120188496629P>LgnomAD
COSV64229250
rs550712261
29P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs55071226129P>T1000Genomes
ExAC
TOPMed
gnomAD
rs57061304930P>H1000Genomes
ExAC
gnomAD
rs15049884130P>TESP
ExAC
TOPMed
gnomAD
rs74569854131K>RExAC
gnomAD
rs164849424432C>GEnsembl
rs55276298332C>Y1000Genomes
ExAC
TOPMed
gnomAD
rs119838378633P>LTOPMed
gnomAD
rs77521187934P>AExAC
TOPMed
gnomAD
rs76030794834P>LExAC
gnomAD
rs77521187934P>SExAC
TOPMed
gnomAD
rs76813874635Q>EExAC
rs77616267436C>WExAC
TOPMed
gnomAD
rs76227308737P>LExAC
gnomAD
rs75069952838A>DExAC
TOPMed
gnomAD
rs14033201038A>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs14033201038A>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75069952838A>VExAC
TOPMed
gnomAD
TCGA novel39P>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs164849500940C>RgnomAD
COSV10090953940C>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs164849506640C>YgnomAD
rs76672413741S>FExAC
TOPMed
gnomAD
rs75530249542P>LExAC
TOPMed
gnomAD
rs14651662942P>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs78139089243A>PExAC
TOPMed
gnomAD
rs78139089243A>TExAC
TOPMed
gnomAD
rs75721078844V>AExAC
TOPMed
gnomAD
rs75285679844V>IExAC
TOPMed
gnomAD
rs75285679844V>LExAC
TOPMed
gnomAD
COSV6422885145S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs164849654145S>PgnomAD
rs155780115345S>YEnsembl
rs164849672846S>AgnomAD
COSV64229013
rs1557801156
rs1557801156,COSV64229013
46S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
dbSNP
rs133937025548C>WEnsembl
rs74558158849G>CExAC
gnomAD
rs148333989449G>DTOPMed
gnomAD
rs74558158849G>SExAC
gnomAD
rs164849757750P>STOPMed
COSV64228940
rs771895548
51S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs77189554851S>NExAC
TOPMed
gnomAD
rs20177360551S>R1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77189554851S>TExAC
TOPMed
gnomAD
COSV10090951752S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs164849783152S>TEnsembl
rs134978075254S>GgnomAD
rs74664920154S>NExAC
gnomAD
COSV6422913854S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs98800273755C>*Ensembl
rs76833323557G>AExAC
TOPMed
gnomAD
rs155780119957G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Ensembl
dbSNP
rs131465919358P>RTOPMed
gnomAD
TCGA novel59S>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs130309056459S>RTOPMed
gnomAD
rs164849858661G>WgnomAD
rs138924915962G>DTOPMed
gnomAD
rs76133019062G>SExAC
gnomAD
rs77022452963C>YExAC
gnomAD
rs77376717364C>*ExAC
gnomAD
rs164849895065S>CEnsembl
rs76343148265S>IExAC
gnomAD
rs76343148265S>NExAC
gnomAD
rs76343148265S>TExAC
gnomAD
rs123201409866S>CgnomAD
rs122580925467G>ATOPMed
gnomAD
rs122580925467G>ETOPMed
gnomAD
rs75979270168G>AExAC
TOPMed
gnomAD
rs139569905768G>CTOPMed
gnomAD
rs126356266671C>YgnomAD
rs75626481372C>*ExAC
TOPMed
gnomAD
rs14829078872C>SVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs164849995174S>TTOPMed
rs75035723376H>DExAC
gnomAD
rs143999234577R>GTOPMed
gnomAD
rs37124237777R>KESP
ExAC
gnomAD
rs123494599978P>LTOPMed
gnomAD
COSV6422906578P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs155780123678P>TEnsembl
rs54422287679R>C1000Genomes
ExAC
TOPMed
gnomAD
COSV100909563
rs544222876
79R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV64228954
COSV64229059
rs754570664
79R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV64228954
COSV64228954,COSV64229059
COSV64229059
79R>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs75457066479R>PExAC
TOPMed
gnomAD
rs78083034880L>FExAC
gnomAD
COSV100909560
COSV100909560,COSV64228826
COSV64228826
80L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TCGA novel81F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs74786725182H>RExAC
gnomAD
rs56403131583R>G1000Genomes
ExAC
TOPMed
gnomAD
rs15042347683R>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs15042347683R>Q1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV64228830
rs564031315
83R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV64228990
rs1648501276
84R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
COSV6422899084R>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs92149704384R>HTOPMed
gnomAD
rs92149704384R>LTOPMed
gnomAD
rs20219397785R>GExAC
TOPMed
gnomAD
rs11343398785R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs20219397785R>WExAC
TOPMed
gnomAD
rs139489511486H>QgnomAD
rs164850173387Q>HEnsembl
rs979354188S>C1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs979354188S>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV64229171
COSV99056576
rs761035347
88S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
COSV6422881189P>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV64228947
COSV64229148
rs753899892
90D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs76624582191C>*ExAC
TOPMed
gnomAD
rs140675194791C>YTOPMed
gnomAD
VAR_053483
rs11205064
92C>YUniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs75476517993E>DExAC
TOPMed
gnomAD
COSV100909533
rs1400865861
93E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
TCGA novel94S>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
COSV6422903595E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs115714797295E>AEnsembl
rs37219578996P>HESP
ExAC
TOPMed
gnomAD
COSV64229410
rs372195789
96P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV64228922
rs781026851
96P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs78102685196P>TExAC
TOPMed
gnomAD
TCGA novel
rs1648503854
98G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
gnomAD
rs143299365498G>VgnomAD
rs20105895799A>GLikely benign (Ensembl)ExAC
gnomAD
rs77729868199A>TExAC
gnomAD
rs20105895799A>VLikely benign (Ensembl)ExAC
gnomAD
rs1161850395100S>YTOPMed
gnomAD
rs148605385102C>FESP
ExAC
gnomAD
rs962345742104H>RTOPMed
rs1300559976104H>YTOPMed
gnomAD
rs150742175106S>CESP
ExAC
TOPMed
gnomAD
rs150742175106S>FESP
ExAC
TOPMed
gnomAD
rs1648507689107G>ATOPMed
COSV100909528
COSV100909528,COSV64229271
COSV64229271
107G>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV64229083107G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
COSV100909528
COSV100909528,COSV64229271
COSV64229271
107G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1225252187108G>STOPMed
gnomAD
rs1648508109109C>RTOPMed
gnomAD
rs776043293109C>YExAC
TOPMed
gnomAD
COSV64229316110C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
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