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

2 papers

NM_002354.3

p.C99Y

c.296G>A

Surrounding Variants

11 papers

NM_002354.3

p.D100N

c.298G>A

1 paper

NM_002354.3

p.C99_D100insFs

c.297_298ins11

1 paper

NM_002354.3

p.D100G

c.299A>G

1 paper

NM_002354.3

p.D100V

c.299A>T

1 paper

NM_002354.3

p.D98_C99delFs

c.294_297del4

1 paper

NM_002354.3

p.E101*

c.301G>T

1 paper

NM_002354.3

p.D96Y

c.286G>T

7 papers

NM_002354.3

p.G103R

c.307G>A

5 papers

NM_002354.3

p.G103R

c.307G>C

1 paper

NM_002354.3

p.L104V

c.310C>G

3 papers

NM_002354.3

p.F105insFs

c.315dupT

1 paper

NM_002354.3

p.G93A

c.278G>C