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.Y973C

c.2918A>G

Surrounding Variants

1 paper

NM_000038.6

p.Y973F

c.2918A>T

1 paper

NM_000038.6

p.Y973ins1

c.2917_2918insTAA

3 papers

NM_000038.6

p.G974delFs

c.2921delG

2 papers

NM_000038.6

p.G974fs

c.2920_2921fs

1 paper

NM_000038.6

p.G974D

c.2921G>A

1 paper

NM_000038.6

p.G974insFs

c.2921_2922insT

1 paper

NM_000038.6

p.G972C

c.2914G>T

2 papers

NM_000038.6

p.G972fs

c.2914_2915fs

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

2 papers

NM_000038.6

p.K975_R976delFs

c.2925_2926delAA