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.Y997fs

c.2989_2990fs

Surrounding Variants

1 paper

NM_000038.6

p.Y997D

c.2989T>G

2 papers

NM_000038.6

p.Y997insFs

c.2990dupA

1 paper

NM_000038.6

p.Y997delFs

c.2991delT

1 paper

NM_000038.6

p.S996N

c.2987G>A

9 papers

NM_000038.6

p.Y997*

c.2991T>A

1 paper

NM_000038.6

p.Y997Y

c.2991T>C

10 papers

NM_000038.6

p.Y997*

c.2991T>G

1 paper

NM_000038.6

p.Y997_G998insFs

c.2991_2992insA

1 paper

NM_000038.6

p.G998_Q999del2

c.2992_2996del6

1 paper

NM_000038.6

p.S996fs

c.2986_2987fs

1 paper

NM_000038.6

p.S996G

c.2986A>G

1 paper

NM_000038.6

p.G998S

c.2992G>A