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.I391V

c.1171A>G

Surrounding Variants

1 paper

NM_000038.6

p.I391L

c.1171A>C

4 papers

NM_000038.6

p.I391M

c.1173T>G

1 paper

NM_000038.6

p.H392delFs

c.1174_1175delCA

1 paper

NM_000038.6

p.I390V

c.1168A>G

1 paper

NM_000038.6

p.H392Y

c.1174C>T

1 paper

NM_000038.6

p.H392delFs

c.1175delA

1 paper

NM_000038.6

p.H392R

c.1175A>G

1 paper

NM_000038.6

p.N389_I390insFs

c.1167_1168insT

2 papers

NM_000038.6

p.N389N

c.1167C>T

1 paper

NM_000038.6

p.N389T

c.1166A>C

1 paper

NM_000038.6

p.N389I

c.1166A>T

1 paper

NM_000038.6

p.N389_Q394delFs

c.1167_1180del14