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.L292insFs

c.875dupT

Surrounding Variants

2 papers

NM_000038.6

p.L292delFs

c.875delT

1 paper

NM_000038.6

p.V291fs

c.871_872fs

1 paper

NM_000038.6

p.V291A

c.872T>C

1 paper

NM_000038.6

p.V291Fs

c.872_873delinsCFs

1 paper

NM_000038.6

p.L292_S295del4

c.874_884del12

3 papers

NM_000038.6

p.S290N

c.869G>A

1 paper

NM_000038.6

p.S290T

c.869G>C

1 paper

NM_000038.6

p.S290insFs

c.869_870insT

1 paper

NM_000038.6

p.S290G

c.868A>G

1 paper

NM_000038.6

p.L292M

c.874T>A

2 papers

NM_000038.6

p.L292fs

c.874_875fs

4 papers

NM_000038.6

p.L292*

c.875T>A