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.N363S

c.1088A>G

Surrounding Variants

1 paper

NM_000038.6

p.N363_V368del0

c.1089_1103del15

1 paper

NM_000038.6

p.N363D

c.1087A>G

1 paper

NM_000038.6

p.N363Y

c.1087A>T

2 papers

NM_000038.6

p.N363K

c.1089T>A

1 paper

NM_000038.6

p.N363N

c.1089T>C

3 papers

NM_000038.6

p.N363K

c.1089T>G

1 paper

NM_000038.6

p.D364insFs

c.1090_1091insG

1 paper

NM_000038.6

p.D364N

c.1090G>A

6 papers

NM_000038.6

p.G362D

c.1085G>A

1 paper

NM_000038.6

p.G362A

c.1085G>C

1 paper

NM_000038.6

p.D364D

c.1092C>T

1 paper

NM_000038.6

p.G362C

c.1084G>T