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

2 papers

NM_000038.6

p.V1675I

c.5023G>A

Surrounding Variants

1 paper

NM_000038.6

p.R1676del1

c.5026_5027delAGA

1 paper

NM_000038.6

p.R1676fs

c.5026_5027fs

9 papers

NM_000038.6

p.R1676G

c.5026A>G

1 paper

NM_000038.6

p.E1673D

c.5019A>C

1 paper

NM_000038.6

p.E1673D

c.5019A>T

1 paper

NM_000038.6

p.R1676K

c.5027G>A

4 papers

NM_000038.6

p.R1676T

c.5027G>C

1 paper

NM_000038.6

p.E1673G

c.5018A>G

5 papers

NM_000038.6

p.E1673K

c.5017G>A

1 paper

NM_000038.6

p.G1677fs

c.5029_5030fs

1 paper

NM_000038.6

p.E1673*

c.5017G>T

1 paper

NM_000038.6

p.G1677insFs

c.5030_5031insAA