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.T185A

c.553A>G

Surrounding Variants

1 paper

NM_000038.6

p.T185S

c.553A>T

1 paper

NM_000038.6

p.T185delFs

c.555delC

1 paper

NM_000038.6

p.T185S

c.554C>G

4 papers

NM_000038.6

p.T185I

c.554C>T

3 papers

NM_000038.6

p.M184I

c.552G>A

3 papers

NM_000038.6

p.M184I

c.552G>C

3 papers

NM_000038.6

p.M184I

c.552G>T

2 papers

NM_000038.6

p.R186delFs

c.556delA

3 papers

NM_000038.6

p.M184T

c.551T>C

2 papers

NM_000038.6

p.M184V

c.550A>G

1 paper

NM_000038.6

p.R186G

c.556A>G

1 paper

NM_000038.6

p.R186*

c.556A>T