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.T281A

c.841A>G

Surrounding Variants

2 papers

NM_000038.6

p.T281delFs

c.842delC

1 paper

NM_000038.6

p.S280S

c.840A>T

6 papers

NM_000038.6

p.S280*

c.839C>A

6 papers

NM_000038.6

p.S280*

c.839C>G

1 paper

NM_000038.6

p.S280L

c.839C>T

1 paper

NM_000038.6

p.T281_T282insFs

c.843_844insG

1 paper

NM_000038.6

p.T282insFs

c.844_845insC

1 paper

NM_000038.6

p.T282fs

c.844_845fs

1 paper

NM_000038.6

p.T282A

c.844A>G

1 paper

NM_000038.6

p.S280P

c.838T>C

3 papers

NM_000038.6

p.S280_T281delFs

c.839_842del4

1 paper

NM_000038.6

p.T282insFs

c.845_846ins4