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

4 papers

NM_000038.6

p.N1017_D1018delFs

c.3050_3053del4

Surrounding Variants

1 paper

NM_000038.6

p.D1016_N1017ins1

c.3048_3049insTAA

1 paper

NM_000038.6

p.N1017delFs

c.3049delA

1 paper

NM_000038.6

p.N1017fs

c.3049_3050fs

4 papers

NM_000038.6

p.N1017fs

c.3049_3050fs

1 paper

NM_000038.6

p.D1016delFs

c.3048delT

2 papers

NM_000038.6

p.D1016N

c.3046G>A

1 paper

NM_000038.6

p.D1016Y

c.3046G>T

2 papers

NM_000038.6

p.N1017del1

c.3049_3051delAAT

1 paper

NM_000038.6

p.D1018_G1019delFs

c.3054_3057del4

1 paper

NM_000038.6

p.D1018N

c.3052G>A

1 paper

NM_000038.6

p.D1018Y

c.3052G>T

1 paper

NM_000038.6

p.D1015N

c.3043G>A