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

2 papers

NM_000038.6

p.A1553insFs

c.4659dupA

Surrounding Variants

1 paper

NM_000038.6

p.A1553G

c.4658C>G

1 paper

NM_000038.6

p.A1553V

c.4658C>T

1 paper

NM_000038.6

p.E1554insFs

c.4660_4661insG

3 papers

NM_000038.6

p.A1553T

c.4657G>A

2 papers

NM_000038.6

p.E1554K

c.4660G>A

123 papers

NM_000038.6

p.T1556insFs

c.4666_4667insA

1 paper

NM_000038.6

p.E1554insFs

c.4661_4662insAA

34 papers

NM_000038.6

p.E1554fs

c.4660_4661fs

18 papers

NM_000038.6

p.E1554*

c.4660G>T

18 papers

NM_000038.6

p.T1556delFs

c.4666delA

1 paper

NM_000038.6

p.K1555_T1556delFs

c.4665_4666delAA

2 papers

NM_000038.6

p.E1554fs

c.4660_4661fs