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.F259F

c.777C>T

Surrounding Variants

1 paper

NM_002354.3

p.E258G

c.773A>G

3 papers

NM_002354.3

p.Q262R

c.785A>G

1 paper

NM_002354.3

p.Q262L

c.785A>T

1 paper

NM_002354.3

p.A256_P257insFs

c.768_769insAG

2 papers

NM_002354.3

p.G263A

c.788G>C

1 paper

NM_002354.3

p.A256S

c.766G>T

2 papers

NM_002354.3

p.K255N

c.765A>C

2 papers

NM_002354.3

p.K255N

c.765A>T

1 paper

NM_002354.3

p.K255Fs

c.764delinsGGFs

1 paper

NM_002354.3

p.L264_K265delFs

c.791_794del4

2 papers

NM_002354.3

p.E254G

c.761A>G

1 paper

NM_002354.3

p.K255delFs

c.765delA