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.Q1680Q

c.5040G>A

Surrounding Variants

1 paper

NM_000038.6

p.Q1680P

c.5039A>C

1 paper

NM_000038.6

p.Q1680K

c.5038C>A

1 paper

NM_000038.6

p.Q1680E

c.5038C>G

3 papers

NM_000038.6

p.Q1680*

c.5038C>T

2 papers

NM_000038.6

p.A1679A

c.5037A>G

1 paper

NM_000038.6

p.A1679V

c.5036C>T

1 paper

NM_000038.6

p.G1682S

c.5044G>A

2 papers

NM_000038.6

p.G1682R

c.5044G>C

1 paper

NM_000038.6

p.G1682_E1683insA

c.5044_5048ins3

1 paper

NM_000038.6

p.G1682D

c.5045G>A

2 papers

NM_000038.6

p.A1679fs

c.5035_5036fs

1 paper

NM_000038.6

p.A1679insFs

c.5035_5036insTA