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

7 papers

NM_000038.6

p.R88W

c.262C>T

Surrounding Variants

1 paper

NM_000038.6

p.R88insFs

c.263_264insAG

1 paper

NM_000038.6

p.R88G

c.262C>G

1 paper

NM_000038.6

p.R88delFs

c.263delG

15 papers

NM_000038.6

p.R88Q

c.263G>A

2 papers

NM_000038.6

p.R88L

c.263G>T

1 paper

NM_000038.6

p.R88R

c.264G>A

3 papers

NM_000038.6

p.L87P

c.260T>C

1 paper

NM_000038.6

p.L87R

c.260T>G

2 papers

NM_000038.6

p.L87delFs

c.261delG

1 paper

NM_000038.6

p.L87fs

c.259_260fs

1 paper

NM_000038.6

p.L87L

c.259C>T

1 paper

NM_000038.6

p.S89P

c.265T>C