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.N862_Y863insFs

c.2586_2587insCA

Surrounding Variants

7 papers

NM_000038.6

p.N862K

c.2586C>A

1 paper

NM_000038.6

p.N862_Y863insFs

c.2586_2587ins4

8 papers

NM_000038.6

p.N862K

c.2586C>G

1 paper

NM_000038.6

p.Y863delFs

c.2587_2588delTA

1 paper

NM_000038.6

p.N862fs

c.2584_2585fs

1 paper

NM_000038.6

p.N862D

c.2584A>G

1 paper

NM_000038.6

p.N862_A866delFs

c.2585_2597del13

1 paper

NM_000038.6

p.H864delFs

c.2590delC

2 papers

NM_000038.6

p.Y863*

c.2589C>A

2 papers

NM_000038.6

p.Y863*

c.2589C>G

1 paper

NM_000038.6

p.Y863Y

c.2589C>T

2 papers

NM_000038.6

p.H864_P865insFs

c.2592_2593insAT