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.P1458H

c.4373C>A

Surrounding Variants

1 paper

NM_000038.6

p.P1458L

c.4373C>T

3 papers

NM_000038.6

p.P1458fs

c.4372_4373fs

1 paper

NM_000038.6

p.P1458A

c.4372C>G

3 papers

NM_000038.6

p.P1458S

c.4372C>T

1 paper

NM_000038.6

p.P1458_T1459insFs

c.4374_4375ins4

1 paper

NM_000038.6

p.P1458insFs

c.4373_4374insC

1 paper

NM_000038.6

p.T1459insFs

c.4375_4376insC

4 papers

NM_000038.6

p.T1459fs

c.4375_4376fs

1 paper

NM_000038.6

p.A1457A

c.4371A>C

1 paper

NM_000038.6

p.A1457A

c.4371A>G

2 papers

NM_000038.6

p.T1459S

c.4375A>T

2 papers

NM_000038.6

p.P1458delFs

c.4372delC