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.K221E

c.661A>G

Surrounding Variants

1 paper

NM_002354.3

p.K221T

c.662A>C

1 paper

NM_002354.3

p.G222S

c.664G>A

1 paper

NM_002354.3

p.D219_V220Splc

c.658-1G>A

2 papers

NM_002354.3

p.D219_V220Splc

c.658-2A>G

1 paper

NM_002354.3

p.E223Q

c.667G>C

1 paper

NM_002354.3

p.D219_V220Splc

c.658-6A>G

1 paper

NM_002354.3

p.S224insFs

c.672dupC

1 paper

NM_002354.3

p.S224Y

c.671C>A

1 paper

NM_002354.3

p.S228P

c.682T>C

1 paper

NM_002354.3

p.S228Y

c.683C>A

1 paper

NM_002354.3

p.S228C

c.683C>G

1 paper

NM_002354.3

p.K230R

c.689A>G