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.K782insFs

c.2344_2345insT

Surrounding Variants

1 paper

NM_000038.6

p.K782*

c.2344A>T

1 paper

NM_000038.6

p.K782R

c.2345A>G

1 paper

NM_000038.6

p.P781fs

c.2341_2342fs

1 paper

NM_000038.6

p.P781A

c.2341C>G

1 paper

NM_000038.6

p.P781S

c.2341C>T

3 papers

NM_000038.6

p.P781delFs

c.2343delC

2 papers

NM_000038.6

p.S780N

c.2339G>A

1 paper

NM_000038.6

p.S780fs

c.2338_2339fs

3 papers

NM_000038.6

p.S784T

c.2350T>A

2 papers

NM_000038.6

p.L779_S780insFs

c.2337_2338insT

1 paper

NM_000038.6

p.S784insFs

c.2351_2352insT

4 papers

NM_000038.6

p.L779*

c.2336T>A