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

2 papers

NM_000038.6

p.I196I

c.588C>T

Surrounding Variants

2 papers

NM_000038.6

p.R197delFs

c.589delA

3 papers

NM_000038.6

p.R197_V198delFs

c.591_592delAG

1 paper

NM_000038.6

p.R197insFs

c.589_590ins5

1 paper

NM_000038.6

p.R197fs

c.589_590fs

2 papers

NM_000038.6

p.R197G

c.589A>G

1 paper

NM_000038.6

p.R197*

c.589A>T

1 paper

NM_000038.6

p.R197fs

c.589_590fs

4 papers

NM_000038.6

p.I196V

c.586A>G

3 papers

NM_000038.6

p.R197K

c.590G>A

1 paper

NM_000038.6

p.Q195R

c.584A>G

2 papers

NM_000038.6

p.V198I

c.592G>A

1 paper

NM_000038.6

p.V198fs

c.592_593fs