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.S1737fs

c.5209_5210fs

Surrounding Variants

1 paper

NM_000038.6

p.S1737_H1738insA

c.5209_5213ins3

1 paper

NM_000038.6

p.S1737G

c.5209A>G

1 paper

NM_000038.6

p.S1737I

c.5210G>T

1 paper

NM_000038.6

p.K1736R

c.5207A>G

1 paper

NM_000038.6

p.H1738_K1739delFs

c.5214_5215delCA

1 paper

NM_000038.6

p.H1738fs

c.5212_5213fs

1 paper

NM_000038.6

p.H1738Y

c.5212C>T

4 papers

NM_000038.6

p.H1738P

c.5213A>C

2 papers

NM_000038.6

p.H1738R

c.5213A>G

1 paper

NM_000038.6

p.H1738L

c.5213A>T

1 paper

NM_000038.6

p.K1739E

c.5215A>G

1 paper

NM_000038.6

p.G1735R

c.5203G>A