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.R1450_V1452delFs

c.4348_4354del7

Surrounding Variants

2 papers

NM_000038.6

p.K1449fs

c.4345_4346fs

1 paper

NM_000038.6

p.K1449E

c.4345A>G

2 papers

NM_000038.6

p.K1449*

c.4345A>T

2 papers

NM_000038.6

p.K1449fs

c.4345_4346fs

1 paper

NM_000038.6

p.T1448S

c.4343C>G

2 papers

NM_000038.6

p.T1448I

c.4343C>T

1 paper

NM_000038.6

p.T1448S

c.4342A>T

3 papers

NM_000038.6

p.T1448delFs

c.4344delC

1 paper

NM_000038.6

p.K1449K

c.4347G>A

1 paper

NM_000038.6

p.R1450_P1453delFs

c.4348_4357del10

3 papers

NM_000038.6

p.Q1447P

c.4340A>C

3 papers

NM_000038.6

p.R1450fs

c.4348_4349fs