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.W117*

c.351G>A

Surrounding Variants

1 paper

NM_002354.3

p.W117C

c.351G>C

2 papers

NM_002354.3

p.W117*

c.350G>A

3 papers

NM_002354.3

p.C118insFs

c.352_353ins4

1 paper

NM_002354.3

p.C118Y

c.353G>A

1 paper

NM_002354.3

p.C116Y

c.347G>A

1 paper

NM_002354.3

p.M115I

c.345G>A

1 paper

NM_002354.3

p.M115I

c.345G>C

1 paper

NM_002354.3

p.M115I

c.345G>T

4 papers

NM_002354.3

p.C118_G123delFs

c.352_368del17

43 papers

NM_002354.3

p.M115T

c.344T>C

1 paper

NM_002354.3

p.M115_C118Fs

c.344_352delinsCGTGCTGFs

1 paper

NM_002354.3

p.N120S

c.359A>G