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.I249fs

c.745_746fs

Surrounding Variants

1 paper

NM_002354.3

p.L248*

c.743T>G

1 paper

NM_002354.3

p.T247insFs

c.741dupT

2 papers

NM_002354.3

p.I249_Y250delFs

c.745_749del5

1 paper

NM_002354.3

p.T247fs

c.739_740fs

1 paper

NM_002354.3

p.T247P

c.739A>C

3 papers

NM_002354.3

p.Y251*

c.753T>A

3 papers

NM_002354.3

p.Y251*

c.753T>G

6 papers

NM_002354.3

p.D253N

c.757G>A

2 papers

NM_002354.3

p.G245S

c.733G>A

2 papers

NM_002354.3

p.D253G

c.758A>G

1 paper

NM_002354.3

p.K255delFs

c.765delA

2 papers

NM_002354.3

p.E254G

c.761A>G