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

2 papers

NM_000038.6

p.N1531fs

c.4591_4592fs

Surrounding Variants

3 papers

NM_000038.6

p.N1531fs

c.4591_4592fs

1 paper

NM_000038.6

p.N1531I

c.4592A>T

1 paper

NM_000038.6

p.E1530K

c.4588G>A

1 paper

NM_000038.6

p.D1532N

c.4594G>A

6 papers

NM_000038.6

p.N1531insFs

c.4592dupA

1 paper

NM_000038.6

p.D1532insFs

c.4594_4595insA

1 paper

NM_000038.6

p.D1532fs

c.4594_4595fs

12 papers

NM_000038.6

p.E1530*

c.4588G>T

1 paper

NM_000038.6

p.D1532_S1539delFs

c.4595_4617del23

1 paper

NM_000038.6

p.D1532G

c.4595A>G

1 paper

NM_000038.6

p.E1530delFs

c.4588delG

1 paper

NM_000038.6

p.D1532_N1533insFs

c.4596_4597insA