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

3 papers

NM_002354.3

p.R173H

c.518G>A

Surrounding Variants

1 paper

NM_002354.3

p.R173S

c.517C>A

1 paper

NM_002354.3

p.R173insFs

c.517_518insGT

1 paper

NM_002354.3

p.R173C

c.517C>T

1 paper

NM_002354.3

p.R173fs

c.517_518fs

1 paper

NM_002354.3

p.T172T

c.516G>A

1 paper

NM_002354.3

p.R173insFs

c.517dupC

1 paper

NM_002354.3

p.Y174C

c.521A>G

1 paper

NM_002354.3

p.T172_R173insFs

c.516_517insTG

9 papers

NM_002354.3

p.T172M

c.515C>T

2 papers

NM_002354.3

p.Q175*

c.523C>T

1 paper

NM_002354.3

p.D177Y

c.529G>T

2 papers

NM_002354.3

p.I170_T171del1

c.509_511delTCA