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.D170G

c.509A>G

Surrounding Variants

1 paper

NM_000038.6

p.D170A

c.509A>C

1 paper

NM_000038.6

p.S171_L172del2

c.511_515del6

4 papers

NM_000038.6

p.D170N

c.508G>A

1 paper

NM_000038.6

p.D170H

c.508G>C

6 papers

NM_000038.6

p.D170fs

c.508_509fs

2 papers

NM_000038.6

p.D170fs

c.508_509fs

2 papers

NM_000038.6

p.D170_S171insFs

c.510_511insA

1 paper

NM_000038.6

p.D170_S171insFs

c.510_511insAC

2 papers

NM_000038.6

p.S171fs

c.511_512fs

2 papers

NM_000038.6

p.S171R

c.511A>C

1 paper

NM_000038.6

p.I169M

c.507A>G

1 paper

NM_000038.6

p.S171G

c.511A>G