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

22 papers

NM_002354.3

p.T164Splc

c.491+1G>A

Surrounding Variants

1 paper

NM_002354.3

p.T164Splc

c.491+1G>C

1 paper

NM_002354.3

p.T164Splc

c.491+1G>T

2 papers

NM_002354.3

p.T164I

c.491C>T

1 paper

NM_002354.3

p.R163Q

c.488G>A

1 paper

NM_002354.3

p.R163W

c.487C>T

1 paper

NM_002354.3

p.L162W

c.485T>G

1 paper

NM_002354.3

p.D158E

c.474T>G

1 paper

NM_002354.3

p.Y157C

c.470A>G

1 paper

NM_002354.3

p.P156R

c.467C>G

4 papers

NM_002354.3

p.P156delFs

c.467delC

2 papers

NM_002354.3

p.E154K

c.460G>A

1 paper

NM_002354.3

p.E154fs

c.460_461fs