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.S111R

c.333T>A

Surrounding Variants

1 paper

NM_000038.6

p.P112T

c.334C>A

1 paper

NM_000038.6

p.P112A

c.334C>G

5 papers

NM_000038.6

p.P112S

c.334C>T

4 papers

NM_000038.6

p.S111N

c.332G>A

5 papers

NM_000038.6

p.S111G

c.331A>G

1 paper

NM_000038.6

p.P112insFs

c.336dupT

1 paper

NM_000038.6

p.P112R

c.335C>G

3 papers

NM_000038.6

p.P112L

c.335C>T

2 papers

NM_000038.6

p.C110*

c.330C>A

2 papers

NM_000038.6

p.C110C

c.330C>T

1 paper

NM_001127511.3

p.S121_P122del2

c.361_365del6

1 paper

NM_000038.6

p.P112P

c.336T>A