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

11 papers

NM_002354.3

p.I277M

c.831A>G

Surrounding Variants

1 paper

NM_002354.3

p.A278S

c.832G>T

1 paper

NM_002354.3

p.A278V

c.833C>T

1 paper

NM_002354.3

p.V279L

c.835G>C

1 paper

NM_002354.3

p.V279A

c.836T>C

1 paper

NM_002354.3

p.V279V

c.837T>G

1 paper

NM_002354.3

p.V280F

c.838G>T

1 paper

NM_002354.3

p.V275E

c.824T>A

1 paper

NM_002354.3

p.V275fs

c.823_824fs

3 papers

NM_002354.3

p.V275delFs

c.823delG

1 paper

NM_002354.3

p.G282A

c.845G>C

1 paper

NM_002354.3

p.V284_V285del1

c.852_854delTGT

2 papers

NM_002354.3

p.I272T

c.815T>C