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.P1188delFs

c.3562delC

Surrounding Variants

1 paper

NM_000038.6

p.I1187M

c.3561T>G

1 paper

NM_000038.6

p.I1187T

c.3560T>C

1 paper

NM_000038.6

p.I1187fs

c.3559_3560fs

1 paper

NM_000038.6

p.I1187V

c.3559A>G

2 papers

NM_000038.6

p.P1188_S1189delFs

c.3562_3565del4

2 papers

NM_000038.6

p.P1188H

c.3563C>A

2 papers

NM_000038.6

p.S1189delFs

c.3565delT

3 papers

NM_000038.6

p.I1187insFs

c.3559dupA

2 papers

NM_000038.6

p.S1189fs

c.3565_3566fs

8 papers

NM_000038.6

p.S1189*

c.3566C>A

8 papers

NM_000038.6

p.S1189*

c.3566C>G

1 paper

NM_000038.6

p.S1189L

c.3566C>T