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.H913_C914delFs

c.2738_2741del4

Surrounding Variants

2 papers

NM_000038.6

p.H913fs

c.2737_2738fs

1 paper

NM_000038.6

p.H913D

c.2737C>G

1 paper

NM_000038.6

p.H913Y

c.2737C>T

1 paper

NM_000038.6

p.H913fs

c.2737_2738fs

1 paper

NM_000038.6

p.L912F

c.2736A>C

2 papers

NM_000038.6

p.H913R

c.2738A>G

1 paper

NM_000038.6

p.L912F

c.2736A>T

1 paper

NM_000038.6

p.C914delFs

c.2740delT

2 papers

NM_000038.6

p.C914del1

c.2740_2741delTGT

3 papers

NM_000038.6

p.L912*

c.2735T>A

1 paper

NM_000038.6

p.H913H

c.2739T>C

3 papers

NM_000038.6

p.L912*

c.2735T>G