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.S183R

c.547A>C

Surrounding Variants

1 paper

NM_002354.3

p.S183N

c.548G>A

2 papers

NM_002354.3

p.T182M

c.545C>T

1 paper

NM_002354.3

p.S183R

c.549T>A

1 paper

NM_002354.3

p.S183R

c.549T>G

4 papers

NM_002354.3

p.L185_Y186Splc

c.555+1G>C

1 paper

NM_002354.3

p.F180fs

c.538_539fs

1 paper

NM_002354.3

p.F180delFs

c.540delT

1 paper

NM_002354.3

p.L185_Y186Splc

c.555+2T>C

2 papers

NM_002354.3

p.K179R

c.536A>G

1 paper

NM_002354.3

p.L185_Y186Splc

c.555+3A>T

2 papers

NM_002354.3

p.P178L

c.533C>T

1 paper

NM_002354.3

p.D177Y

c.529G>T