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

10 papers

NM_000038.6

p.Q1477*

c.4429C>T

Surrounding Variants

1 paper

NM_000038.6

p.Q1477_R1478insT

c.4429_4433ins3

1 paper

NM_000038.6

p.Q1477E

c.4429C>G

3 papers

NM_000038.6

p.Q1477H

c.4431G>C

3 papers

NM_000038.6

p.Q1477H

c.4431G>T

2 papers

NM_000038.6

p.V1476I

c.4426G>A

1 paper

NM_000038.6

p.V1476fs

c.4426_4427fs

1 paper

NM_000038.6

p.V1476delFs

c.4426delG

1 paper

NM_000038.6

p.R1478K

c.4433G>A

1 paper

NM_000038.6

p.R1478M

c.4433G>T

3 papers

NM_000038.6

p.A1475V

c.4424C>T

3 papers

NM_000038.6

p.A1475T

c.4423G>A

2 papers

NM_000038.6

p.V1479I

c.4435G>A