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.N164N

c.492T>C

Surrounding Variants

1 paper

NM_000038.6

p.N164S

c.491A>G

3 papers

NM_000038.6

p.L165F

c.493C>T

1 paper

NM_000038.6

p.N164insFs

c.490_491insGT

2 papers

NM_000038.6

p.N164D

c.490A>G

1 paper

NM_000038.6

p.N164Y

c.490A>T

1 paper

NM_000038.6

p.L165P

c.494T>C

1 paper

NM_000038.6

p.T166insFs

c.496dupA

1 paper

NM_000038.6

p.L165L

c.495C>T

1 paper

NM_000038.6

p.Q163Q

c.489G>A

1 paper

NM_000038.6

p.Q163H

c.489G>C

1 paper

NM_000038.6

p.Q163H

c.489G>T

1 paper

NM_000038.6

p.N164delFs

c.491delA