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.G2006_P2009del4

c.6016_6026del12

Surrounding Variants

1 paper

NM_000038.6

p.G2006delFs

c.6017delG

1 paper

NM_000038.6

p.S2005*

c.6014C>A

1 paper

NM_000038.6

p.S2005*

c.6014C>G

1 paper

NM_000038.6

p.G2006C

c.6016G>T

1 paper

NM_000038.6

p.S2005fs

c.6013_6014fs

1 paper

NM_000038.6

p.S2005_G2006del2

c.6013_6017del6

1 paper

NM_000038.6

p.G2006G

c.6018C>T

1 paper

NM_000038.6

p.A2004E

c.6011C>A

1 paper

NM_000038.6

p.A2004insFs

c.6011_6012insTT

1 paper

NM_000038.6

p.A2004G

c.6011C>G

1 paper

NM_000038.6

p.A2004V

c.6011C>T

1 paper

NM_000038.6

p.Y2007H

c.6019T>C