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.Q201fs

c.601_602fs

Surrounding Variants

1 paper

NM_002354.3

p.Q201K

c.601C>A

1 paper

NM_002354.3

p.Q201E

c.601C>G

1 paper

NM_002354.3

p.Q201*

c.601C>T

1 paper

NM_002354.3

p.Q201fs

c.601_602fs

1 paper

NM_002354.3

p.Q201delFs

c.601delC

1 paper

NM_002354.3

p.S200C

c.599C>G

1 paper

NM_002354.3

p.K202T

c.605A>C

1 paper

NM_002354.3

p.T203_Q204del1

c.609_611delTCA

1 paper

NM_002354.3

p.N198_S199insFs

c.594_595insA

1 paper

NM_002354.3

p.S200del1

c.598_599delTCT

1 paper

NM_002354.3

p.N198H

c.592A>C

1 paper

NM_002354.3

p.Q204E

c.610C>G