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

4 papers

NM_000038.6

p.G53V

c.158G>T

Surrounding Variants

3 papers

NM_000038.6

p.G53E

c.158G>A

1 paper

NM_000038.6

p.G53insFs

c.158_159ins4

4 papers

NM_000038.6

p.G53R

c.157G>A

4 papers

NM_000038.6

p.G53R

c.157G>C

1 paper

NM_000038.6

p.G53fs

c.157_158fs

2 papers

NM_000038.6

p.G53*

c.157G>T

1 paper

NM_000038.6

p.G53fs

c.157_158fs

2 papers

NM_000038.6

p.Q52H

c.156A>C

2 papers

NM_000038.6

p.S54R

c.160A>C

1 paper

NM_000038.6

p.S54G

c.160A>G

2 papers

NM_000038.6

p.Q52H

c.156A>T

1 paper

NM_000038.6

p.Q52P

c.155A>C