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.Q1429Q

c.4287A>G

Surrounding Variants

4 papers

NM_000038.6

p.Q1429H

c.4287A>C

4 papers

NM_000038.6

p.Q1429H

c.4287A>T

3 papers

NM_000038.6

p.T1430fs

c.4288_4289fs

5 papers

NM_000038.6

p.Q1429R

c.4286A>G

1 paper

NM_000038.6

p.T1430A

c.4288A>G

2 papers

NM_000038.6

p.T1430S

c.4288A>T

5 papers

NM_000038.6

p.T1430delFs

c.4289delC

2 papers

NM_000038.6

p.T1430fs

c.4288_4289fs

7 papers

NM_000038.6

p.Q1429fs

c.4285_4286fs

2 papers

NM_000038.6

p.T1430S

c.4289C>G

90 papers

NM_000038.6

p.Q1429*

c.4285C>T

1 paper

NM_000038.6

p.T1430I

c.4289C>T