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.F2099_D2100ins1

c.6297_6298insGCT

Surrounding Variants

1 paper

NM_000038.6

p.F2099S

c.6296T>C

2 papers

NM_000038.6

p.D2100del1

c.6298_6300delGAT

1 paper

NM_000038.6

p.F2099L

c.6297T>A

1 paper

NM_000038.6

p.F2099L

c.6295T>C

1 paper

NM_000038.6

p.F2099L

c.6297T>G

1 paper

NM_000038.6

p.D2100N

c.6298G>A

1 paper

NM_000038.6

p.N2098K

c.6294T>A

1 paper

NM_000038.6

p.N2098K

c.6294T>G

1 paper

NM_000038.6

p.N2098S

c.6293A>G

1 paper

NM_000038.6

p.W2101delFs

c.6302delG

3 papers

NM_000038.6

p.W2101*

c.6302G>A

3 papers

NM_000038.6

p.W2101*

c.6303G>A