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

4 papers

NM_000038.6

p.E1536K

c.4606G>A

Surrounding Variants

13 papers

NM_000038.6

p.E1536insFs

c.4607_4608insA

15 papers

NM_000038.6

p.E1536fs

c.4606_4607fs

10 papers

NM_000038.6

p.E1536*

c.4606G>T

4 papers

NM_000038.6

p.T1537delFs

c.4609delA

1 paper

NM_000038.6

p.E1536_E1538delFs

c.4608_4614del7

2 papers

NM_000038.6

p.E1536G

c.4607A>G

1 paper

NM_000038.6

p.N1535K

c.4605T>A

1 paper

NM_000038.6

p.N1535K

c.4605T>G

1 paper

NM_000038.6

p.E1536D

c.4608A>C

1 paper

NM_000038.6

p.E1536D

c.4608A>T

1 paper

NM_000038.6

p.N1535fs

c.4603_4604fs

1 paper

NM_000038.6

p.T1537fs

c.4609_4610fs