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

5 papers

NM_000038.6

p.V1320fs

c.3958_3959fs

Surrounding Variants

2 papers

NM_000038.6

p.V1320M

c.3958G>A

2 papers

NM_000038.6

p.V1320fs

c.3958_3959fs

1 paper

NM_000038.6

p.V1320E

c.3959T>A

1 paper

NM_000038.6

p.V1320delFs

c.3960delG

1 paper

NM_000038.6

p.S1321delFs

c.3961_3962delAG

1 paper

NM_000038.6

p.P1319H

c.3956C>A

4 papers

NM_000038.6

p.P1319L

c.3956C>T

5 papers

NM_000038.6

p.P1319delFs

c.3957delT

1 paper

NM_000038.6

p.V1320delFs

c.3959_3960delTG

1 paper

NM_000038.6

p.P1319_E1322delFs

c.3957_3964del8

2 papers

NM_000038.6

p.V1320V

c.3960G>T

1 paper

NM_000038.6

p.E1322_A1325delFs

c.3964_3974del11