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

2 papers

NM_000038.6

p.I55V

c.163A>G

Surrounding Variants

3 papers

NM_000038.6

p.S54R

c.162T>A

2 papers

NM_000038.6

p.I55T

c.164T>C

2 papers

NM_000038.6

p.S54R

c.162T>G

1 paper

NM_000038.6

p.D57_A59del0

c.170_175del6

1 paper

NM_001127511.3

p.I65_A71delFs

c.195_211del17

2 papers

NM_000038.6

p.S54N

c.161G>A

1 paper

NM_000038.6

p.I55delFs

c.163_164delAT

1 paper

NM_000038.6

p.E56insFs

c.166_167insG

2 papers

NM_000038.6

p.S54R

c.160A>C

1 paper

NM_000038.6

p.S54G

c.160A>G

2 papers

NM_000038.6

p.E56K

c.166G>A

1 paper

NM_000038.6

p.E56Q

c.166G>C