Varaico: Literature-Extracted Genetic Variants

Gene:DUX4
Variant:p.A2S

DUX4

58 papers

RefSeq Summary

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10....

Pfam Domains

Homeodomainaa 20–76UCSCHomeodomain
Homeodomainaa 95–149UCSCHomeodomain

Gene Aliases

HGNC Name

double homeobox 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001306068.3
p.A2S
c.4G>T
Surrounding Variants
1 paper
NM_001306068.3
p.M1T
c.2T>C
1 paper
NM_001306068.3
p.M1V
c.1A>G
1 paper
NM_001306068.3
p.L3L
c.9C>T
1 paper
NM_001306068.3
p.T5R
c.14C>G
1 paper
NM_001306068.3
p.T5I
c.14C>T
1 paper
NM_001306068.3
p.T5T
c.15A>G
1 paper
NM_001306068.3
p.P6P
c.18C>T
1 paper
NM_001306068.3
p.L11F
c.31C>T
1 paper
NM_001306068.3
p.G19E
c.56G>A
1 paper
NM_001306068.3
p.I65N
c.194T>A
1 paper
NM_001306068.3
p.Q68H
c.204G>C
1 paper
NM_001306068.3
p.Q68H
c.204G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."