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.V1405Fs

c.4215delinsTCCAGATAGFs

Surrounding Variants

1 paper

NM_000038.6

p.Q1406delFs

c.4216delC

1 paper

NM_000038.6

p.Q1406_E1408delFs

c.4216_4222del7

5 papers

NM_000038.6

p.Q1406fs

c.4216_4217fs

66 papers

NM_000038.6

p.Q1406*

c.4216C>T

2 papers

NM_000038.6

p.S1407delFs

c.4219_4220delAG

1 paper

NM_000038.6

p.Q1406fs

c.4216_4217fs

1 paper

NM_000038.6

p.Q1406R

c.4217A>G

2 papers

NM_000038.6

p.Q1406delFs

c.4218delG

1 paper

NM_000038.6

p.S1407_G1412delFs

c.4219_4234del16

3 papers

NM_000038.6

p.V1405I

c.4213G>A

1 paper

NM_000038.6

p.V1405fs

c.4213_4214fs

1 paper

NM_000038.6

p.V1405insFs

c.4215dupT