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.A107T

c.319G>A

Surrounding Variants

4 papers

NM_002354.3

p.A107delFs

c.321delC

1 paper

NM_002354.3

p.A107fs

c.319_320fs

1 paper

NM_002354.3

p.A107V

c.320C>T

2 papers

NM_002354.3

p.K106K

c.318G>A

3 papers

NM_002354.3

p.A107delFs

c.319delG

4 papers

NM_002354.3

p.K106fs

c.316_317fs

6 papers

NM_002354.3

p.K106*

c.316A>T

1 paper

NM_002354.3

p.K108R

c.323A>G

4 papers

NM_002354.3

p.F105C

c.314T>G

2 papers

NM_002354.3

p.Q109*

c.325C>T

1 paper

NM_002354.3

p.Q109P

c.326A>C

2 papers

NM_002354.3

p.Q109R

c.326A>G