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

11 papers

NM_002354.3

p.T164Splc

c.492-2A>G

Surrounding Variants

4 papers

NM_002354.3

p.T164Splc

c.492-1G>A

1 paper

NM_002354.3

p.T164Splc

c.492-1G>T

2 papers

NM_002354.3

p.A165T

c.493G>A

5 papers

NM_002354.3

p.T164Splc

c.492-5T>C

1 paper

NM_002354.3

p.L166fs

c.496_497fs

2 papers

NM_002354.3

p.L166F

c.496C>T

27 papers

NM_002354.3

p.Q167insFs

c.499dupC

1 paper

NM_002354.3

p.Q167fs

c.499_500fs

1 paper

NM_002354.3

p.Q167*

c.499C>T

5 papers

NM_002354.3

p.Q167fs

c.499_500fs

1 paper

NM_002354.3

p.K168insFs

c.503dupA

2 papers

NM_002354.3

p.E169del1

c.505_507delGAG