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.Y796fs

c.2386_2387fs

Surrounding Variants

1 paper

NM_000038.6

p.Y796H

c.2386T>C

1 paper

NM_000038.6

p.Y796insFs

c.2386_2387insC

3 papers

NM_000038.6

p.Y796fs

c.2386_2387fs

2 papers

NM_000038.6

p.Y796C

c.2387A>G

1 paper

NM_000038.6

p.L795_Y796ins2

c.2385_2386ins6

1 paper

NM_000038.6

p.L795L

c.2385C>T

2 papers

NM_000038.6

p.Y796delFs

c.2387_2388delAT

3 papers

NM_000038.6

p.Y796*

c.2388T>A

3 papers

NM_000038.6

p.Y796*

c.2388T>G

1 paper

NM_000038.6

p.G797delFs

c.2390delG

2 papers

NM_000038.6

p.L795I

c.2383C>A

1 paper

NM_000038.6

p.G797S

c.2389G>A