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

5 papers

NM_002354.3

p.T127I

c.380C>T

Surrounding Variants

1 paper

NM_002354.3

p.T127A

c.379A>G

1 paper

NM_002354.3

p.D128Y

c.382G>T

1 paper

NM_002354.3

p.D128G

c.383A>G

1 paper

NM_002354.3

p.R126K

c.377G>A

1 paper

NM_002354.3

p.R125insFs

c.373_374insC

1 paper

NM_002354.3

p.D130Y

c.388G>T

1 paper

NM_002354.3

p.D130E

c.390C>A

1 paper

NM_002354.3

p.D130E

c.390C>G

1 paper

NM_002354.3

p.T131A

c.391A>G

1 paper

NM_002354.3

p.T131N

c.392C>A

2 papers

NM_002354.3

p.G123V

c.368G>T

5 papers

NM_002354.3

p.E132*

c.394G>T