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.D78H

c.232G>C

Surrounding Variants

3 papers

NM_000038.6

p.D78N

c.232G>A

1 paper

NM_000038.6

p.D78fs

c.232_233fs

1 paper

NM_000038.6

p.D78A

c.233A>C

1 paper

NM_000038.6

p.L77L

c.231A>G

1 paper

NM_000038.6

p.D78G

c.233A>G

2 papers

NM_000038.6

p.D78V

c.233A>T

3 papers

NM_000038.6

p.L77*

c.230T>A

1 paper

NM_000038.6

p.D78E

c.234T>A

3 papers

NM_000038.6

p.L77*

c.230T>G

1 paper

NM_000038.6

p.D78E

c.234T>G

1 paper

NM_000038.6

p.S79delFs

c.235delA

1 paper

NM_000038.6

p.S79_K90del12

c.235_269del36