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.A71P

c.211G>C

Surrounding Variants

1 paper

NM_002354.3

p.A71S

c.211G>T

1 paper

NM_002354.3

p.A71V

c.212C>T

1 paper

NM_002354.3

p.M73T

c.218T>C

1 paper

NM_002354.3

p.V68L

c.202G>T

1 paper

NM_002354.3

p.L67L

c.199T>C

1 paper

NM_002354.3

p.V68_M69del2

c.202_206del6

3 papers

NM_002354.3

p.G75D

c.224G>A

5 papers

NM_002354.3

p.C66Y

c.197G>A

5 papers

NM_002354.3

p.S76*

c.227C>A

11 papers

NM_002354.3

p.S76*

c.227C>G

2 papers

NM_002354.3

p.K65T

c.194A>C

1 paper

NM_002354.3

p.K65_A71delFs

c.195_211del17