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.S105_R106delins

c.315_318delinsA

Surrounding Variants

1 paper

NM_000038.6

p.R106S

c.316C>A

1 paper

NM_000038.6

p.R106G

c.316C>G

6 papers

NM_000038.6

p.R106C

c.316C>T

1 paper

NM_000038.6

p.S105N

c.314G>A

1 paper

NM_000038.6

p.S105fs

c.313_314fs

4 papers

NM_000038.6

p.S105G

c.313A>G

1 paper

NM_000038.6

p.S105C

c.313A>T

7 papers

NM_000038.6

p.R106H

c.317G>A

1 paper

NM_000038.6

p.R106insFs

c.317_318ins4

1 paper

NM_000038.6

p.R106L

c.317G>T

1 paper

NM_000038.6

p.S105del1

c.313_314delAGC

1 paper

NM_000038.6

p.S105_S107delFs

c.313_320del8