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.V547F

c.1639G>T

Surrounding Variants

1 paper

NM_000038.6

p.V547I

c.1639G>A

2 papers

NM_000038.6

p.L548insFs

c.1643dupT

1 paper

NM_000038.6

p.L548delFs

c.1643delT

1 paper

NM_000038.6

p.S546R

c.1638T>A

1 paper

NM_000038.6

p.S546R

c.1638T>G

1 paper

NM_000038.6

p.S546N

c.1637G>A

1 paper

NM_000038.6

p.S546delFs

c.1638delT

1 paper

NM_000038.6

p.V547_L548insFs

c.1641_1642insG

1 paper

NM_000038.6

p.S546R

c.1636A>C

3 papers

NM_000038.6

p.L548V

c.1642T>G

3 papers

NM_000038.6

p.L548fs

c.1642_1643fs

1 paper

NM_000038.6

p.L548fs

c.1642_1643fs