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.P1427insFs

c.4279_4280insTG

Surrounding Variants

1 paper

NM_000038.6

p.P1427insFs

c.4279_4280insA

1 paper

NM_000038.6

p.P1427fs

c.4279_4280fs

4 papers

NM_000038.6

p.P1427fs

c.4279_4280fs

2 papers

NM_000038.6

p.P1427L

c.4280C>T

1 paper

NM_001354897.2

p.P1437_Q1439del3

c.4309_4316del9

1 paper

NM_000038.6

p.P1427delFs

c.4281delT

1 paper

NM_000038.6

p.S1426N

c.4277G>A

6 papers

NM_000038.6

p.P1427delFs

c.4280delC

1 paper

NM_000038.6

p.S1426_Q1429delFs

c.4278_4285del8

1 paper

NM_000038.6

p.G1428insFs

c.4282_4283dupGG

1 paper

NM_000038.6

p.G1428delFs

c.4282delG

2 papers

NM_000038.6

p.S1426fs

c.4276_4277fs