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.L488delFs

c.1462delC

Surrounding Variants

1 paper

NM_000038.6

p.G487G

c.1461G>A

1 paper

NM_000038.6

p.L488delFs

c.1462_1463delCT

2 papers

NM_000038.6

p.L488F

c.1462C>T

3 papers

NM_000038.6

p.G487E

c.1460G>A

2 papers

NM_000038.6

p.G487R

c.1459G>A

1 paper

NM_000038.6

p.G487R

c.1459G>C

1 paper

NM_000038.6

p.G487_L488del1

c.1460_1462delGGC

4 papers

NM_000038.6

p.Y486*

c.1458T>A

58 papers

NM_000038.6

p.Y486Y

c.1458T>C

5 papers

NM_000038.6

p.Y486*

c.1458T>G

1 paper

NM_000038.6

p.G487delFs

c.1461delG

1 paper

NM_000038.6

p.T489insFs

c.1466_1467insC