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.P84L

c.251C>T

Surrounding Variants

6 papers

NM_002354.3

p.P84S

c.250C>T

2 papers

NM_002354.3

p.G86R

c.256G>A

2 papers

NM_002354.3

p.G86R

c.256G>C

2 papers

NM_002354.3

p.A82G

c.245C>G

1 paper

NM_002354.3

p.A87insFs

c.259_260insT

1 paper

NM_002354.3

p.A87V

c.260C>T

3 papers

NM_002354.3

p.L88V

c.262C>G

1 paper

NM_002354.3

p.R80*

c.238A>T

3 papers

NM_002354.3

p.Q89*

c.265C>T

1 paper

NM_002354.3

p.G79E

c.236G>A

13 papers

NM_002354.3

p.Q89H

c.267G>C

12 papers

NM_002354.3

p.Q89H

c.267G>T