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

2 papers

NM_000038.6

p.I228V

c.682A>G

Surrounding Variants

2 papers

NM_000038.6

p.I228L

c.682A>T

1 paper

NM_000038.6

p.L229_I231del3

c.685_692del9

2 papers

NM_000038.6

p.I228T

c.683T>C

1 paper

NM_000038.6

p.D227insFs

c.680_681ins8

2 papers

NM_000038.6

p.D227A

c.680A>C

2 papers

NM_000038.6

p.D227G

c.680A>G

2 papers

NM_000038.6

p.I228M

c.684A>G

1 paper

NM_000038.6

p.D227V

c.680A>T

3 papers

NM_000038.6

p.L229delFs

c.685delC

1 paper

NM_000038.6

p.L229I

c.685C>A

1 paper

NM_000038.6

p.L229F

c.685C>T

1 paper

NM_000038.6

p.L229delFs

c.686delT