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.L478insFs

c.1434dupA

Surrounding Variants

2 papers

NM_000038.6

p.L478*

c.1433T>A

2 papers

NM_000038.6

p.L478*

c.1433T>G

2 papers

NM_000038.6

p.L478delFs

c.1434delA

1 paper

NM_000038.6

p.L478F

c.1434A>T

1 paper

NM_000038.6

p.L479delFs

c.1436delT

1 paper

NM_000038.6

p.L479L

c.1435T>C

1 paper

NM_000038.6

p.L479insFs

c.1435_1436insA

2 papers

NM_000038.6

p.L479fs

c.1435_1436fs

1 paper

NM_000038.6

p.E477G

c.1430A>G

2 papers

NM_000038.6

p.L479*

c.1436T>A

1 paper

NM_000038.6

p.L479delFs

c.1437delG

4 papers

NM_000038.6

p.L479_Q480del1

c.1437_1439delGCA