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.M1211T

c.3632T>C

Surrounding Variants

2 papers

NM_000038.6

p.M1211R

c.3632T>G

1 paper

NM_000038.6

p.M1211insFs

c.3631_3632insG

3 papers

NM_000038.6

p.M1211fs

c.3631_3632fs

1 paper

NM_000038.6

p.M1211insFs

c.3632dupT

2 papers

NM_000038.6

p.M1211V

c.3631A>G

1 paper

NM_000038.6

p.M1211fs

c.3631_3632fs

1 paper

NM_000038.6

p.M1211I

c.3633G>A

1 paper

NM_000038.6

p.M1211I

c.3633G>C

1 paper

NM_000038.6

p.M1211I

c.3633G>T

1 paper

NM_000038.6

p.M1211insFs

c.3631dupA

1 paper

NM_000038.6

p.S1212insFs

c.3634_3635insA

1 paper

NM_000038.6

p.S1212F

c.3635C>T