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.A1347A

c.4041C>G

Surrounding Variants

3 papers

NM_000038.6

p.R1348fs

c.4042_4043fs

1 paper

NM_000038.6

p.R1348W

c.4042A>T

1 paper

NM_000038.6

p.R1348_H1349insFs

c.4043_4046dup4

2 papers

NM_000038.6

p.A1347V

c.4040C>T

3 papers

NM_000038.6

p.A1347T

c.4039G>A

1 paper

NM_000038.6

p.R1348K

c.4043G>A

1 paper

NM_000038.6

p.A1347insFs

c.4041dupC

1 paper

NM_000038.6

p.A1347_H1349insFs

c.4041_4047dup7

1 paper

NM_000038.6

p.A1347fs

c.4039_4040fs

1 paper

NM_000038.6

p.A1347S

c.4039G>T

2 papers

NM_000038.6

p.A1347delFs

c.4040delC

1 paper

NM_000038.6

p.S1346S

c.4038A>G