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.A514V

c.1541C>T

Surrounding Variants

1 paper

NM_000038.6

p.A514T

c.1540G>A

1 paper

NM_000038.6

p.A514fs

c.1540_1541fs

1 paper

NM_000038.6

p.V513V

c.1539A>G

3 papers

NM_000038.6

p.A514delFs

c.1540delG

2 papers

NM_000038.6

p.V513I

c.1537G>A

1 paper

NM_000038.6

p.V513delFs

c.1538delT

1 paper

NM_000038.6

p.V513fs

c.1537_1538fs

1 paper

NM_000038.6

p.K516fs

c.1546_1547fs

3 papers

NM_000038.6

p.K516E

c.1546A>G

1 paper

NM_000038.6

p.K516*

c.1546A>T

1 paper

NM_000038.6

p.D512V

c.1535A>T

5 papers

NM_000038.6

p.K516K

c.1548G>A