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

3 papers

NM_000038.6

p.S1364N

c.4091G>A

Surrounding Variants

1 paper

NM_000038.6

p.S1364_A1366delFs

c.4092_4098del7

4 papers

NM_000038.6

p.S1364fs

c.4090_4091fs

1 paper

NM_000038.6

p.S1364R

c.4090A>C

1 paper

NM_000038.6

p.S1364G

c.4090A>G

1 paper

NM_000038.6

p.S1364delFs

c.4091delG

3 papers

NM_000038.6

p.S1364fs

c.4090_4091fs

1 paper

NM_000038.6

p.G1365_A1366del1

c.4094_4096delGTG

1 paper

NM_000038.6

p.S1364R

c.4092T>A

1 paper

NM_000038.6

p.S1364R

c.4092T>G

1 paper

NM_000038.6

p.S1364_G1365insFs

c.4092_4093insA

2 papers

NM_000038.6

p.G1365_A1366delFs

c.4093_4096del4

1 paper

NM_000038.6

p.K1363K

c.4089A>G