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.S102C

c.305C>G

Surrounding Variants

2 papers

NM_000038.6

p.S102F

c.305C>T

3 papers

NM_000038.6

p.S102P

c.304T>C

1 paper

NM_000038.6

p.S102A

c.304T>G

1 paper

NM_000038.6

p.S102insFs

c.304_305insT

1 paper

NM_000038.6

p.S102insFs

c.305_306dupCT

1 paper

NM_000038.6

p.G101G

c.303A>G

4 papers

NM_000038.6

p.V103I

c.307G>A

2 papers

NM_000038.6

p.V103L

c.307G>C

1 paper

NM_000038.6

p.V103L

c.307G>T

1 paper

NM_000038.6

p.V103fs

c.307_308fs

2 papers

NM_000038.6

p.G101E

c.302G>A

1 paper

NM_000038.6

p.G101A

c.302G>C