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.E574G

c.1721A>G

Surrounding Variants

1 paper

NM_000038.6

p.E574E

c.1722A>G

2 papers

NM_000038.6

p.E574K

c.1720G>A

1 paper

NM_000038.6

p.E574Q

c.1720G>C

5 papers

NM_000038.6

p.E574*

c.1720G>T

3 papers

NM_000038.6

p.E574_A576del3

c.1720_1727del9

1 paper

NM_000038.6

p.C575delFs

c.1724delG

1 paper

NM_000038.6

p.C575Y

c.1724G>A

1 paper

NM_000038.6

p.M573T

c.1718T>C

1 paper

NM_000038.6

p.A576delFs

c.1726delG

1 paper

NM_000038.6

p.L572F

c.1716G>C

1 paper

NM_000038.6

p.L572F

c.1716G>T

1 paper

NM_000038.6

p.L572*

c.1715T>A