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.D209delins

c.627delinsCATC

Surrounding Variants

1 paper

NM_000038.6

p.D209E

c.627T>G

1 paper

NM_000038.6

p.M210insFs

c.628_629insA

1 paper

NM_000038.6

p.D209_M210insFs

c.627_628ins10

2 papers

NM_000038.6

p.D209A

c.626A>C

1 paper

NM_000038.6

p.D209G

c.626A>G

1 paper

NM_000038.6

p.M210V

c.628A>G

2 papers

NM_000038.6

p.D209V

c.626A>T

1 paper

NM_000038.6

p.M210delFs

c.629delT

1 paper

NM_000038.6

p.M210fs

c.628_629fs

1 paper

NM_000038.6

p.D209N

c.625G>A

1 paper

NM_000038.6

p.D209H

c.625G>C

1 paper

NM_000038.6

p.D209Y

c.625G>T