Varaico: Literature-Extracted Genetic Variants

EPCAM

545 papers

RefSeq Summary

This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastroin...

Pfam Domains

EpCAM_Naa 27–65UCSCEpithelial cell adhesion molecule, N-terminal domain

Thyroglobulin_1aa 66–135UCSCThyroglobulin type-1 repeat

EPCAM-Trop-2_Caa 141–253UCSCEPCAM/Trop-2, C-terminal

Gene Aliases

HGNC Name

epithelial cell adhesion molecule

HGNC Previous Symbols

M4S1; MIC18; TACSTD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002354.3

p.Y215N

c.643T>A

Surrounding Variants

2 papers

NM_002354.3

p.Y215S

c.644A>C

1 paper

NM_002354.3

p.Y214_Y215delFs

c.642_645del4

2 papers

NM_002354.3

p.F216C

c.647T>G

1 paper

NM_002354.3

p.A213P

c.637G>C

2 papers

NM_002354.3

p.E217*

c.649G>T

3 papers

NM_002354.3

p.K218delFs

c.654delA

1 paper

NM_002354.3

p.D219delFs

c.655_656delGA

1 paper

NM_002354.3

p.D211insFs

c.632_633insT

1 paper

NM_002354.3

p.D219Y

c.655G>T

1 paper

NM_002354.3

p.D219fs

c.655_656fs

3 papers

NM_002354.3

p.D219_V220Splc

c.657+1G>A

1 paper

NM_002354.3

p.D219_V220Splc

c.657+3G>A