Varaico: Literature-Extracted Genetic Variants

APC

6,282 papers

RefSeq Summary

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional acti...

Pfam Domains

APC_N_CCaa 4–55UCSCCoiled-coil N-terminus of APC, dimerisation domain

Suppressor_APCaa 131–207UCSCAdenomatous polyposis coli tumour suppressor protein

APC_repaa 393–466UCSCAdenomatous polyposis coli (APC) repeat

Armaa 512–553UCSCArmadillo/beta-catenin-like repeat

Armaa 649–689UCSCArmadillo/beta-catenin-like repeat

Armaa 691–731UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

APC regulator of Wnt signaling pathway

HGNC Alias Symbols

DP2; DP3; DP2.5; PPP1R46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000038.6

p.S62insFs

c.185_186insA

Surrounding Variants

3 papers

NM_000038.6

p.S62F

c.185C>T

1 paper

NM_000038.6

p.S62A

c.184T>G

1 paper

NM_000038.6

p.A61A

c.183T>A

1 paper

NM_000038.6

p.S63T

c.187T>A

1 paper

NM_000038.6

p.S63P

c.187T>C

1 paper

NM_000038.6

p.A61A

c.183T>G

1 paper

NM_000038.6

p.S63Y

c.188C>A

3 papers

NM_000038.6

p.A61V

c.182C>T

3 papers

NM_000038.6

p.A61T

c.181G>A

1 paper

NM_000038.6

p.A61P

c.181G>C

1 paper

NM_000038.6

p.A61S

c.181G>T

1 paper

NM_000038.6

p.S63del1

c.187_188delTCT