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.T882_T883delFs

c.2645_2649del5

Surrounding Variants

1 paper

NM_000038.6

p.T882insFs

c.2644_2645insCC

2 papers

NM_000038.6

p.T882fs

c.2644_2645fs

3 papers

NM_000038.6

p.T882A

c.2644A>G

1 paper

NM_000038.6

p.T882fs

c.2644_2645fs

3 papers

NM_000038.6

p.T882I

c.2645C>T

2 papers

NM_000038.6

p.S881F

c.2642C>T

2 papers

NM_000038.6

p.T882T

c.2646C>T

1 paper

NM_000038.6

p.S881T

c.2641T>A

1 paper

NM_000038.6

p.S881_T882insFs

c.2643_2644insC

1 paper

NM_000038.6

p.S881insFs

c.2642_2643dupCC

1 paper

NM_000038.6

p.S881fs

c.2641_2642fs

2 papers

NM_000038.6

p.I880I

c.2640C>T