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.S296N

c.887G>A

Surrounding Variants

1 paper

NM_000038.6

p.S296T

c.887G>C

1 paper

NM_000038.6

p.S296insFs

c.887_888ins4

7 papers

NM_000038.6

p.H298delFs

c.893_894delAC

2 papers

NM_000038.6

p.T297_H298delFs

c.891_894del4

2 papers

NM_000038.6

p.S296fs

c.886_887fs

1 paper

NM_000038.6

p.S296G

c.886A>G

1 paper

NM_000038.6

p.S296S

c.888C>T

2 papers

NM_000038.6

p.T297fs

c.889_890fs

1 paper

NM_000038.6

p.T297delFs

c.890delC

1 paper

NM_000038.6

p.S295S

c.885T>C

3 papers

NM_000038.6

p.T297insFs

c.890_891insA

1 paper

NM_000038.6

p.T297insFs

c.890_891ins17