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

5 papers

NM_000038.6

p.M2213I

c.6639G>A

Surrounding Variants

5 papers

NM_000038.6

p.M2213I

c.6639G>C

1 paper

NM_000038.6

p.K2214insFs

c.6642dupA

5 papers

NM_000038.6

p.M2213I

c.6639G>T

1 paper

NM_000038.6

p.M2213T

c.6638T>C

2 papers

NM_000038.6

p.M2213L

c.6637A>C

4 papers

NM_000038.6

p.M2213V

c.6637A>G

1 paper

NM_000038.6

p.M2213L

c.6637A>T

1 paper

NM_000038.6

p.Q2215E

c.6643C>G

1 paper

NM_000038.6

p.Q2215fs

c.6643_6644fs

1 paper

NM_000038.6

p.Q2212*

c.6634C>T

1 paper

NM_000038.6

p.P2216T

c.6646C>A

2 papers

NM_000038.6

p.P2216L

c.6647C>T