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

26 papers

NM_000038.6

p.S1344*

c.4031C>G

Surrounding Variants

25 papers

NM_000038.6

p.S1344*

c.4031C>A

1 paper

NM_000038.6

p.E1345delFs

c.4033_4034delGA

1 paper

NM_000038.6

p.S1344T

c.4030T>A

1 paper

NM_000038.6

p.S1344P

c.4030T>C

2 papers

NM_000038.6

p.S1344delFs

c.4031delC

1 paper

NM_000038.6

p.E1345K

c.4033G>A

1 paper

NM_000038.6

p.E1345fs

c.4033_4034fs

33 papers

NM_000038.6

p.E1345*

c.4033G>T

1 paper

NM_000038.6

p.E1345delFs

c.4034delA

1 paper

NM_000038.6

p.E1345fs

c.4033_4034fs

1 paper

NM_000038.6

p.S1344_A1351delFs

c.4031_4053del23

1 paper

NM_000038.6

p.S1343Y

c.4028C>A