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.Q197K

c.589C>A

Surrounding Variants

3 papers

NM_002354.3

p.Q197*

c.589C>T

2 papers

NM_002354.3

p.Q197fs

c.589_590fs

1 paper

NM_002354.3

p.Q197L

c.590A>T

1 paper

NM_002354.3

p.V196A

c.587T>C

1 paper

NM_002354.3

p.N198H

c.592A>C

1 paper

NM_002354.3

p.S200del1

c.598_599delTCT

1 paper

NM_002354.3

p.N198_S199insFs

c.594_595insA

3 papers

NM_002354.3

p.L195V

c.583C>G

1 paper

NM_002354.3

p.L195insFs

c.583dupC

1 paper

NM_002354.3

p.S200C

c.599C>G

1 paper

NM_002354.3

p.Q201delFs

c.601delC

7 papers

NM_002354.3

p.I193V

c.577A>G