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.S780insFs

c.2338dupA

Surrounding Variants

4 papers

NM_000038.6

p.L779*

c.2336T>A

1 paper

NM_000038.6

p.L779S

c.2336T>C

4 papers

NM_000038.6

p.L779*

c.2336T>G

2 papers

NM_000038.6

p.L779_S780insFs

c.2337_2338insT

1 paper

NM_000038.6

p.L779fs

c.2335_2336fs

1 paper

NM_000038.6

p.L779fs

c.2335_2336fs

1 paper

NM_000038.6

p.S780fs

c.2338_2339fs

1 paper

NM_000038.6

p.N778K

c.2334T>A

4 papers

NM_000038.6

p.L779insFs

c.2336_2337insT

2 papers

NM_000038.6

p.L779insFs

c.2335_2336dupTT

1 paper

NM_000038.6

p.N778T

c.2333A>C

1 paper

NM_000038.6

p.N778S

c.2333A>G