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.N111K

c.333C>A

Surrounding Variants

2 papers

NM_002354.3

p.N111K

c.333C>G

1 paper

NM_002354.3

p.N111N

c.333C>T

1 paper

NM_002354.3

p.N111S

c.332A>G

1 paper

NM_002354.3

p.G112_T113del2

c.334_338del6

2 papers

NM_002354.3

p.G112S

c.334G>A

1 paper

NM_002354.3

p.G112D

c.335G>A

1 paper

NM_002354.3

p.C110Y

c.329G>A

2 papers

NM_002354.3

p.T113I

c.338C>T

1 paper

NM_002354.3

p.C110S

c.328T>A

1 paper

NM_002354.3

p.Q109P

c.326A>C

2 papers

NM_002354.3

p.Q109R

c.326A>G

2 papers

NM_002354.3

p.Q109*

c.325C>T