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.P1584L

c.4751C>T

Surrounding Variants

1 paper

NM_000038.6

p.P1584A

c.4750C>G

2 papers

NM_000038.6

p.P1584S

c.4750C>T

1 paper

NM_000038.6

p.T1585fs

c.4753_4754fs

2 papers

NM_000038.6

p.M1583I

c.4749G>A

2 papers

NM_000038.6

p.M1583I

c.4749G>C

2 papers

NM_000038.6

p.M1583I

c.4749G>T

2 papers

NM_000038.6

p.T1585I

c.4754C>T

2 papers

NM_000038.6

p.M1583fs

c.4747_4748fs

1 paper

NM_000038.6

p.M1583L

c.4747A>C

1 paper

NM_000038.6

p.M1583V

c.4747A>G

1 paper

NM_000038.6

p.M1583L

c.4747A>T

1 paper

NM_000038.6

p.K1586fs

c.4756_4757fs