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.G1428delFs

c.4284delA

Surrounding Variants

1 paper

NM_000038.6

p.G1428E

c.4283G>A

1 paper

NM_000038.6

p.G1428insFs

c.4283_4284insA

3 papers

NM_000038.6

p.Q1429delFs

c.4285delC

1 paper

NM_000038.6

p.Q1429_P1432delFs

c.4285_4294del10

1 paper

NM_000038.6

p.Q1429_R1435delFs

c.4287_4303del17

3 papers

NM_000038.6

p.G1428R

c.4282G>A

1 paper

NM_000038.6

p.G1428R

c.4282G>C

1 paper

NM_000038.6

p.G1428insFs

c.4282_4283ins5

2 papers

NM_000038.6

p.G1428fs

c.4282_4283fs

5 papers

NM_000038.6

p.G1428*

c.4282G>T

7 papers

NM_000038.6

p.Q1429fs

c.4285_4286fs

90 papers

NM_000038.6

p.Q1429*

c.4285C>T