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.K226E

c.676A>G

Surrounding Variants

2 papers

NM_000038.6

p.K226fs

c.676_677fs

2 papers

NM_000038.6

p.K226fs

c.676_677fs

1 paper

NM_000038.6

p.E225D

c.675A>C

1 paper

NM_000038.6

p.K226R

c.677A>G

1 paper

NM_000038.6

p.E225_K226Fs

c.675_676delinsGFs

1 paper

NM_000038.6

p.D227delFs

c.679delG

1 paper

NM_000038.6

p.K226_I228Fs

c.677_684delinsTTTCFs

2 papers

NM_000038.6

p.E225G

c.674A>G

2 papers

NM_000038.6

p.D227insFs

c.679_680insAG

4 papers

NM_000038.6

p.E225K

c.673G>A

1 paper

NM_000038.6

p.E225fs

c.673_674fs

10 papers

NM_000038.6

p.E225*

c.673G>T