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.L77I

c.229T>A

Surrounding Variants

1 paper

NM_000038.6

p.L77V

c.229T>G

3 papers

NM_000038.6

p.L77_D78delFs

c.230_233del4

6 papers

NM_000038.6

p.N76N

c.228C>T

1 paper

NM_000038.6

p.L77del1

c.229_231delTTA

3 papers

NM_000038.6

p.L77*

c.230T>A

3 papers

NM_000038.6

p.L77*

c.230T>G

2 papers

NM_000038.6

p.N76S

c.227A>G

1 paper

NM_000038.6

p.L77L

c.231A>G

2 papers

NM_000038.6

p.N76H

c.226A>C

1 paper

NM_000038.6

p.N76D

c.226A>G

3 papers

NM_000038.6

p.D78N

c.232G>A

1 paper

NM_000038.6

p.D78H

c.232G>C