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

91 papers

NM_000038.6

p.Y935*

c.2805C>G

Surrounding Variants

96 papers

NM_000038.6

p.Y935*

c.2805C>A

2 papers

NM_000038.6

p.N936insFs

c.2807dupA

1 paper

NM_000038.6

p.Y935_N936insFs

c.2805_2806insAA

1 paper

NM_000038.6

p.Y935_N936insFs

c.2805_2806insT

3 papers

NM_000038.6

p.Y935Y

c.2805C>T

1 paper

NM_000038.6

p.N936delFs

c.2807delA

1 paper

NM_000038.6

p.Y935insFs

c.2805dupC

2 papers

NM_000038.6

p.N936fs

c.2806_2807fs

2 papers

NM_000038.6

p.Y935delFs

c.2805delC

1 paper

NM_000038.6

p.N936S

c.2807A>G

2 papers

NM_000038.6

p.F937delFs

c.2810delT

1 paper

NM_000038.6

p.N936_F937delFs

c.2808_2811del4