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.H307delFs

c.919delC

Surrounding Variants

2 papers

NM_000038.6

p.S306R

c.918T>A

3 papers

NM_000038.6

p.S306R

c.918T>G

1 paper

NM_000038.6

p.H307N

c.919C>A

2 papers

NM_000038.6

p.H307D

c.919C>G

4 papers

NM_000038.6

p.H307Y

c.919C>T

1 paper

NM_000038.6

p.H307fs

c.919_920fs

1 paper

NM_000038.6

p.S306T

c.917G>C

2 papers

NM_000038.6

p.S306R

c.916A>C

1 paper

NM_000038.6

p.H307P

c.920A>C

1 paper

NM_000038.6

p.H307L

c.920A>T

1 paper

NM_000038.6

p.S306fs

c.916_917fs

1 paper

NM_000038.6

p.H307H

c.921T>C