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

4 papers

NM_000038.6

p.V566I

c.1696G>A

Surrounding Variants

1 paper

NM_000038.6

p.V566_G567insA

c.1696_1700ins3

2 papers

NM_000038.6

p.V566delFs

c.1697delT

2 papers

NM_000038.6

p.E565E

c.1695A>G

1 paper

NM_000038.6

p.E565G

c.1694A>G

2 papers

NM_000038.6

p.G567R

c.1699G>A

1 paper

NM_000038.6

p.E565K

c.1693G>A

1 paper

NM_000038.6

p.G567R

c.1699G>C

2 papers

NM_000038.6

p.G567fs

c.1699_1700fs

1 paper

NM_000038.6

p.E565*

c.1693G>T

1 paper

NM_000038.6

p.G567*

c.1699G>T

1 paper

NM_000038.6

p.G567_S568delFs

c.1700_1704del5

1 paper

NM_000038.6

p.G567G

c.1701A>G