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.L180_Q181delFs

c.540_543del4

Surrounding Variants

2 papers

NM_000038.6

p.L180*

c.539T>A

1 paper

NM_000038.6

p.L180*

c.539T>G

3 papers

NM_000038.6

p.L180_Q181insFs

c.540_541insA

1 paper

NM_000038.6

p.L180_Q181insFs

c.540_541insG

1 paper

NM_000038.6

p.L180fs

c.538_539fs

1 paper

NM_000038.6

p.L180fs

c.538_539fs

1 paper

NM_000038.6

p.S179S

c.537C>A

1 paper

NM_000038.6

p.Q181insFs

c.541_542insA

1 paper

NM_000038.6

p.Q181E

c.541C>G

8 papers

NM_000038.6

p.Q181*

c.541C>T

1 paper

NM_000038.6

p.L180_I196delFs

c.538_586del49

1 paper

NM_000038.6

p.Q181R

c.542A>G