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.Y96S

c.287A>C

Surrounding Variants

5 papers

NM_000038.6

p.Y96C

c.287A>G

1 paper

NM_000038.6

p.Y96F

c.287A>T

1 paper

NM_000038.6

p.Y96_E100Fs

c.287_299delinsGGFs

1 paper

NM_000038.6

p.G97_S102del6

c.289_305del18

1 paper

NM_000038.6

p.G97_P112del16

c.289_335del48

6 papers

NM_000038.6

p.Y96*

c.288T>A

1 paper

NM_000038.6

p.Y96Y

c.288T>C

3 papers

NM_000038.6

p.Y96*

c.288T>G

1 paper

NM_000038.6

p.Y96D

c.286T>G

1 paper

NM_000038.6

p.Y96_G97insFs

c.288_289insC

1 paper

NM_000038.6

p.Y96_G97insFs

c.288_289insCC

7 papers

NM_000038.6

p.G97R

c.289G>A