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

1–12 of 472 variants

43 papers

NM_002354.3

p.M115T

c.344T>C

27 papers

NM_002354.3

p.Q167insFs

c.499dupC

26 papers

NM_002354.3

p.L185_Y186Splc

c.556-14A>G

22 papers

NM_002354.3

p.T164Splc

c.491+1G>A

15 papers

NM_002354.3

p.R153T

c.458G>C

13 papers

NM_002354.3

p.Q89H

c.267G>C

12 papers

NM_002354.3

p.Q89H

c.267G>T

12 papers

NM_002354.3

p.R138*

c.412C>T

11 papers

NM_002354.3

p.S76*

c.227C>G

11 papers

NM_002354.3

p.D100N

c.298G>A

11 papers

NM_002354.3

p.T164Splc

c.492-2A>G

11 papers

NM_002354.3

p.I277M

c.831A>G