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.A884V

c.2651C>T

Surrounding Variants

1 paper

NM_000038.6

p.A884T

c.2650G>A

2 papers

NM_000038.6

p.A884S

c.2650G>T

2 papers

NM_000038.6

p.A885T

c.2653G>A

1 paper

NM_000038.6

p.Q886delFs

c.2656delC

3 papers

NM_000038.6

p.A885V

c.2654C>T

1 paper

NM_000038.6

p.A885A

c.2655C>T

1 paper

NM_000038.6

p.Q886delFs

c.2656_2657delCA

15 papers

NM_000038.6

p.Q886*

c.2656C>T

2 papers

NM_000038.6

p.T882T

c.2646C>T

1 paper

NM_000038.6

p.Q886R

c.2657A>G

3 papers

NM_000038.6

p.T882I

c.2645C>T

1 paper

NM_000038.6

p.T882insFs

c.2644_2645insCC