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.S2552T

c.7655G>C

Surrounding Variants

2 papers

NM_000038.6

p.S2552N

c.7655G>A

1 paper

NM_000038.6

p.H2551R

c.7652A>G

2 papers

NM_000038.6

p.E2550K

c.7648G>A

1 paper

NM_000038.6

p.E2550Q

c.7648G>C

1 paper

NM_000038.6

p.E2550fs

c.7648_7649fs

1 paper

NM_000038.6

p.S2555*

c.7664C>A

1 paper

NM_000038.6

p.S2555*

c.7664C>G

4 papers

NM_000038.6

p.R2549H

c.7646G>A

1 paper

NM_000038.6

p.R2549_E2550ins6

c.7645_7649ins18

3 papers

NM_000038.6

p.R2549C

c.7645C>T

1 paper

NM_000038.6

p.K2548K

c.7644A>G

2 papers

NM_000038.6

p.K2548E

c.7642A>G