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.D149E

c.447C>G

Surrounding Variants

1 paper

NM_000038.6

p.D149E

c.447C>A

7 papers

NM_000038.6

p.K150del1

c.448_449delAAA

2 papers

NM_000038.6

p.K150_E151delFs

c.450_453del4

2 papers

NM_000038.6

p.D149insFs

c.447dupC

1 paper

NM_000038.6

p.K150fs

c.448_449fs

4 papers

NM_000038.6

p.K150E

c.448A>G

2 papers

NM_000038.6

p.D149G

c.446A>G

2 papers

NM_000038.6

p.D149V

c.446A>T

2 papers

NM_000038.6

p.K150*

c.448A>T

2 papers

NM_000038.6

p.K150fs

c.448_449fs

1 paper

NM_000038.6

p.D149delFs

c.447delC

10 papers

NM_000038.6

p.K150R

c.449A>G