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.Q789H

c.2367G>T

Surrounding Variants

1 paper

NM_000038.6

p.Q789H

c.2367G>C

1 paper

NM_000038.6

p.R790fs

c.2368_2369fs

3 papers

NM_000038.6

p.R790*

c.2368A>T

1 paper

NM_000038.6

p.Q789fs

c.2365_2366fs

14 papers

NM_000038.6

p.Q789*

c.2365C>T

3 papers

NM_000038.6

p.R790K

c.2369G>A

1 paper

NM_000038.6

p.R790I

c.2369G>T

2 papers

NM_000038.6

p.H791_K792delFs

c.2373_2374delCA

1 paper

NM_000038.6

p.Q789insFs

c.2365_2366insC

2 papers

NM_000038.6

p.K788R

c.2363A>G

1 paper

NM_000038.6

p.H791Y

c.2371C>T

2 papers

NM_000038.6

p.H791R

c.2372A>G