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.N205D

c.613A>G

Surrounding Variants

3 papers

NM_002354.3

p.Q204H

c.612G>C

3 papers

NM_002354.3

p.Q204H

c.612G>T

1 paper

NM_002354.3

p.Q204E

c.610C>G

1 paper

NM_002354.3

p.Q204*

c.610C>T

1 paper

NM_002354.3

p.D206N

c.616G>A

1 paper

NM_002354.3

p.D206V

c.617A>T

1 paper

NM_002354.3

p.T203_Q204del1

c.609_611delTCA

1 paper

NM_002354.3

p.K202T

c.605A>C

1 paper

NM_002354.3

p.Q201K

c.601C>A

1 paper

NM_002354.3

p.Q201fs

c.601_602fs

1 paper

NM_002354.3

p.Q201E

c.601C>G

1 paper

NM_002354.3

p.Q201*

c.601C>T