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.M91V

c.271A>G

Surrounding Variants

1 paper

NM_000038.6

p.M91fs

c.271_272fs

1 paper

NM_000038.6

p.M91L

c.271A>T

1 paper

NM_000038.6

p.M91fs

c.271_272fs

1 paper

NM_000038.6

p.K90N

c.270A>C

2 papers

NM_000038.6

p.K90N

c.270A>T

1 paper

NM_000038.6

p.M91T

c.272T>C

1 paper

NM_000038.6

p.K90R

c.269A>G

3 papers

NM_000038.6

p.M91I

c.273G>A

3 papers

NM_000038.6

p.M91I

c.273G>C

3 papers

NM_000038.6

p.M91I

c.273G>T

3 papers

NM_000038.6

p.K90E

c.268A>G

1 paper

NM_000038.6

p.K90*

c.268A>T