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.K1456fs

c.4366_4367fs

Surrounding Variants

5 papers

NM_000038.6

p.K1456*

c.4366A>T

2 papers

NM_000038.6

p.K1456T

c.4367A>C

1 paper

NM_000038.6

p.N1455K

c.4365T>A

1 paper

NM_000038.6

p.N1455K

c.4365T>G

1 paper

NM_000038.6

p.K1456_A1457delFs

c.4366_4369del4

2 papers

NM_000038.6

p.N1455S

c.4364A>G

1 paper

NM_000038.6

p.N1455delFs

c.4365delT

16 papers

NM_000038.6

p.N1455fs

c.4363_4364fs

7 papers

NM_000038.6

p.N1455fs

c.4363_4364fs

2 papers

NM_000038.6

p.A1457T

c.4369G>A

1 paper

NM_000038.6

p.A1457fs

c.4369_4370fs

1 paper

NM_000038.6

p.A1457S

c.4369G>T