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.L185_Y186Splc

c.556-15A>G

Surrounding Variants

26 papers

NM_002354.3

p.L185_Y186Splc

c.556-14A>G

1 paper

NM_002354.3

p.L185_Y186Splc

c.556-5C>T

1 paper

NM_002354.3

p.L185_Y186Splc

c.556-1G>T

5 papers

NM_002354.3

p.Y186fs

c.556_557fs

1 paper

NM_002354.3

p.Y186S

c.557A>C

4 papers

NM_002354.3

p.Y186C

c.557A>G

1 paper

NM_002354.3

p.E187*

c.559G>T

1 paper

NM_002354.3

p.T192S

c.574A>T

1 paper

NM_002354.3

p.T192S

c.575C>G

1 paper

NM_002354.3

p.T192I

c.575C>T

7 papers

NM_002354.3

p.I193V

c.577A>G

2 papers

NM_002354.3

p.I193delFs

c.579delT