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.V368L

c.1102G>C

Surrounding Variants

2 papers

NM_000038.6

p.V368I

c.1102G>A

3 papers

NM_000038.6

p.V368fs

c.1102_1103fs

1 paper

NM_000038.6

p.V368L

c.1102G>T

1 paper

NM_000038.6

p.V368delFs

c.1103delT

1 paper

NM_000038.6

p.V368G

c.1103T>G

2 papers

NM_000038.6

p.V368insFs

c.1102dupG

1 paper

NM_000038.6

p.S367insFs

c.1101dupT

1 paper

NM_000038.6

p.S367C

c.1100C>G

4 papers

NM_000038.6

p.V368delFs

c.1102_1103delGT

1 paper

NM_000038.6

p.S367T

c.1099T>A

3 papers

NM_000038.6

p.S367fs

c.1099_1100fs

6 papers

NM_000038.6

p.S367delFs

c.1100delC