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.D1285N

c.3853G>A

Surrounding Variants

2 papers

NM_000038.6

p.D1285insFs

c.3853_3854insA

1 paper

NM_000038.6

p.D1285V

c.3854A>T

6 papers

NM_000038.6

p.E1284K

c.3850G>A

3 papers

NM_000038.6

p.E1286K

c.3856G>A

2 papers

NM_000038.6

p.E1284Q

c.3850G>C

1 paper

NM_000038.6

p.I1287insFs

c.3859dupA

2 papers

NM_000038.6

p.E1284fs

c.3850_3851fs

32 papers

NM_000038.6

p.E1286*

c.3856G>T

13 papers

NM_000038.6

p.E1284*

c.3850G>T

4 papers

NM_000038.6

p.I1287delFs

c.3859delA

2 papers

NM_000038.6

p.E1286fs

c.3856_3857fs

1 paper

NM_000038.6

p.E1286G

c.3857A>G