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.L1816_K1817insA

c.5446_5450ins3

Surrounding Variants

1 paper

NM_000038.6

p.L1816V

c.5446T>G

2 papers

NM_000038.6

p.L1816fs

c.5446_5447fs

1 paper

NM_000038.6

p.N1815K

c.5445T>A

1 paper

NM_000038.6

p.N1815K

c.5445T>G

2 papers

NM_000038.6

p.K1817insFs

c.5449dupA

1 paper

NM_000038.6

p.N1818delFs

c.5453delA

1 paper

NM_000038.6

p.K1817_N1818insA

c.5449_5453ins3

1 paper

NM_000038.6

p.N1815D

c.5443A>G

1 paper

NM_000038.6

p.K1817*

c.5449A>T

1 paper

NM_000038.6

p.Q1814H

c.5442G>C

1 paper

NM_000038.6

p.Q1814H

c.5442G>T

1 paper

NM_000038.6

p.N1815_D1825del11

c.5443_5474del33