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

7 papers

NM_002354.3

p.Y142Splc

c.426-1G>A

Surrounding Variants

2 papers

NM_002354.3

p.W143*

c.428G>A

3 papers

NM_002354.3

p.W143*

c.429G>A

1 paper

NM_002354.3

p.I144_I145ins5

c.430_434ins15

1 paper

NM_002354.3

p.Y142Splc

c.426-9A>T

1 paper

NM_002354.3

p.I145I

c.435C>T

1 paper

NM_002354.3

p.I146V

c.436A>G

4 papers

NM_002354.3

p.I146N

c.437T>A

2 papers

NM_002354.3

p.E147*

c.439G>T

1 paper

NM_002354.3

p.E147_L148del1

c.440_442delAAC

1 paper

NM_002354.3

p.L148I

c.442C>A

1 paper

NM_002354.3

p.L148L

c.442C>T

2 papers

NM_002354.3

p.H150Q

c.450C>A