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.D903N

c.2707G>A

Surrounding Variants

1 paper

NM_000038.6

p.D903fs

c.2707_2708fs

3 papers

NM_000038.6

p.D903fs

c.2707_2708fs

1 paper

NM_000038.6

p.D903G

c.2708A>G

2 papers

NM_000038.6

p.D903V

c.2708A>T

2 papers

NM_000038.6

p.D903_R904delFs

c.2709_2712del4

3 papers

NM_000038.6

p.R904delFs

c.2711_2712delGA

1 paper

NM_000038.6

p.S905_S906insFs

c.2715_2716ins5

1 paper

NM_000038.6

p.E902fs

c.2704_2705fs

8 papers

NM_000038.6

p.E902*

c.2704G>T

1 paper

NM_000038.6

p.E902fs

c.2704_2705fs

1 paper

NM_000038.6

p.E902_T909delFs

c.2706_2725del20

1 paper

NM_000038.6

p.R904I

c.2711G>T