Varaico: Literature-Extracted Genetic Variants

Gene:DUX4
Variant:p.A147S

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.A147S
c.439G>T
Surrounding Variants
1 paper
NM_001306068.3
p.Q143E
c.427C>G
1 paper
NM_001306068.3
p.E126A
c.377A>C
1 paper
NM_001306068.3
p.A100P
c.298G>C
1 paper
NM_001306068.3
p.T99_V101delFs
c.296_302del7
1 paper
NM_001306068.3
p.E93A
c.278A>C
1 paper
NM_001306068.3
p.E81G
c.242A>G
1 paper
NM_001306068.3
p.E81V
c.242A>T
1 paper
NM_001306068.3
p.S72A
c.214T>G
1 paper
NM_001306068.3
p.R71K
c.212G>A
1 paper
NM_001306068.3
p.P225L
c.674C>T
1 paper
NM_001306068.3
p.Q68H
c.204G>C
1 paper
NM_001306068.3
p.Q68H
c.204G>T
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