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.D1748N

c.5242G>A

Surrounding Variants

1 paper

NM_000038.6

p.D1748H

c.5242G>C

1 paper

NM_000038.6

p.D1748G

c.5243A>G

1 paper

NM_000038.6

p.M1747I

c.5241G>A

1 paper

NM_000038.6

p.M1747I

c.5241G>C

1 paper

NM_000038.6

p.M1747I

c.5241G>T

1 paper

NM_000038.6

p.M1747T

c.5240T>C

1 paper

NM_000038.6

p.M1747insFs

c.5240_5241ins5

1 paper

NM_000038.6

p.M1747L

c.5239A>C

1 paper

NM_000038.6

p.M1747L

c.5239A>T

1 paper

NM_000038.6

p.I1746fs

c.5236_5237fs

1 paper

NM_000038.6

p.I1746V

c.5236A>G

1 paper

NM_000038.6

p.V1750insFs

c.5249_5250dupTC