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

5 papers

NM_000038.6

p.R1399H

c.4196G>A

Surrounding Variants

1 paper

NM_000038.6

p.R1399delFs

c.4197delT

1 paper

NM_000038.6

p.R1399Fs

c.4195delinsATFs

11 papers

NM_000038.6

p.R1399fs

c.4195_4196fs

6 papers

NM_000038.6

p.R1399C

c.4195C>T

1 paper

NM_000038.6

p.R1399delFs

c.4196delG

5 papers

NM_000038.6

p.R1399fs

c.4195_4196fs

1 paper

NM_000038.6

p.R1399insFs

c.4195dupC

8 papers

NM_000038.6

p.S1400fs

c.4198_4199fs

4 papers

NM_000038.6

p.S1400delFs

c.4199delC

21 papers

NM_000038.6

p.S1400*

c.4199C>A

18 papers

NM_000038.6

p.S1400L

c.4199C>T

3 papers

NM_000038.6

p.S1398N

c.4193G>A