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.V2781A

c.8342T>C

Surrounding Variants

1 paper

NM_000038.6

p.V2781M

c.8341G>A

1 paper

NM_000038.6

p.T2782delFs

c.8344delA

2 papers

NM_000038.6

p.T2782A

c.8344A>G

2 papers

NM_000038.6

p.T2782N

c.8345C>A

1 paper

NM_000038.6

p.T2782I

c.8345C>T

1 paper

NM_000038.6

p.R2780K

c.8339G>A

1 paper

NM_000038.6

p.R2780fs

c.8338_8339fs

2 papers

NM_000038.6

p.R2780G

c.8338A>G

1 paper

NM_000038.6

p.R2780_V2781delFs

c.8340_8341delAG

1 paper

NM_000038.6

p.R2780_N2785del6

c.8338_8354del18

1 paper

NM_000038.6

p.P2783H

c.8348C>A

1 paper

NM_000038.6

p.P2783L

c.8348C>T