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.S2337N

c.7010G>A

Surrounding Variants

2 papers

NM_000038.6

p.P2338H

c.7013C>A

1 paper

NM_000038.6

p.P2338L

c.7013C>T

1 paper

NM_000038.6

p.P2339_S2355delFs

c.7016_7064del49

1 paper

NM_000038.6

p.I2336_S2337insT

c.7006_7010ins3

1 paper

NM_000038.6

p.G2335*

c.7003G>T

2 papers

NM_000038.6

p.N2340H

c.7018A>C

1 paper

NM_000038.6

p.N2334S

c.7001A>G

1 paper

NM_000038.6

p.N2334I

c.7001A>T

1 paper

NM_000038.6

p.R2333K

c.6998G>A

1 paper

NM_000038.6

p.G2332D

c.6995G>A

1 paper

NM_000038.6

p.L2342_S2343ins2

c.7026_7027ins6

1 paper

NM_000038.6

p.L2342F

c.7026A>C