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.E2719Q

c.8155G>C

Surrounding Variants

1 paper

NM_000038.6

p.E2719K

c.8155G>A

1 paper

NM_000038.6

p.E2719fs

c.8155_8156fs

1 paper

NM_000038.6

p.E2719*

c.8155G>T

1 paper

NM_000038.6

p.E2719A

c.8156A>C

1 paper

NM_000038.6

p.E2719D

c.8157A>C

1 paper

NM_000038.6

p.E2719D

c.8157A>T

1 paper

NM_000038.6

p.E2719delFs

c.8155delG

1 paper

NM_000038.6

p.G2717D

c.8150G>A

1 paper

NM_000038.6

p.G2717A

c.8150G>C

1 paper

NM_000038.6

p.G2717V

c.8150G>T

2 papers

NM_000038.6

p.G2717delFs

c.8151delT

1 paper

NM_000038.6

p.N2720K

c.8160T>A