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.F2012L

c.6036T>G

Surrounding Variants

1 paper

NM_000038.6

p.F2012L

c.6036T>A

1 paper

NM_000038.6

p.H2013delFs

c.6039delT

1 paper

NM_000038.6

p.F2012L

c.6034T>C

2 papers

NM_000038.6

p.S2011*

c.6032C>A

2 papers

NM_000038.6

p.S2011*

c.6032C>G

1 paper

NM_000038.6

p.V2014F

c.6040G>T

1 paper

NM_000038.6

p.S2011P

c.6031T>C

2 papers

NM_000038.6

p.S2011A

c.6031T>G

1 paper

NM_000038.6

p.S2011del1

c.6031_6032delTCA

2 papers

NM_000038.6

p.E2015K

c.6043G>A

1 paper

NM_000038.6

p.K2010E

c.6028A>G

1 paper

NM_000038.6

p.E2015G

c.6044A>G