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.R976_G977delFs

c.2928_2929delAG

Surrounding Variants

1 paper

NM_000038.6

p.K975N

c.2925A>C

3 papers

NM_000038.6

p.K975N

c.2925A>T

4 papers

NM_000038.6

p.R976fs

c.2926_2927fs

2 papers

NM_000038.6

p.R976G

c.2926A>G

2 papers

NM_000038.6

p.R976*

c.2926A>T

2 papers

NM_000038.6

p.K975*

c.2923A>T

1 paper

NM_000038.6

p.R976K

c.2927G>A

1 paper

NM_000038.6

p.R976insFs

c.2927_2928insA

1 paper

NM_000038.6

p.G977delFs

c.2929delG

5 papers

NM_000038.6

p.R976insFs

c.2926_2927insA

4 papers

NM_000038.6

p.G974_K975insFs

c.2922_2923insG

3 papers

NM_000038.6

p.R976delFs

c.2926delA