Varaico: Literature-Extracted Genetic Variants

Gene:DUX4
Variant:p.A405T

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
2 papers
NM_001306068.3
p.A405T
c.1213G>A
Surrounding Variants
1 paper
NM_001306068.3
p.E398K
c.1192G>A
1 paper
NM_001306068.3
p.E415*
c.1243G>T
1 paper
NM_001306068.3
p.*425Q
c.1273T>C
1 paper
NM_001306068.3
p.Q334*
c.1000C>T
1 paper
NM_001306068.3
p.A329T
c.985G>A
1 paper
NM_001306068.3
p.A322fs
c.964_965fs
1 paper
NM_001306068.3
p.A321V
c.962C>T
1 paper
NM_001306068.3
p.V318D
c.953T>A
1 paper
NM_001306068.3
p.P316S
c.946C>T
1 paper
NM_001306068.3
p.P301S
c.901C>T
1 paper
NM_001306068.3
p.Q296_P302del7
c.886_905del21
1 paper
NM_001306068.3
p.Q273K
c.817C>A
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