Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.V38insFs

DDHD1

120 papers

RefSeq Summary

This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial...

Pfam Domains

DDHDaa 611–885UCSCDDHD domain

Gene Aliases

HGNC Name

DDHD domain containing 1

HGNC Previous Symbol

SPG28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001160148.2
p.V38insFs
c.112_113insGG
Surrounding Variants
1 paper
NM_001160148.2
p.C39Y
c.116G>A
1 paper
NM_001160148.2
p.G22_A23ins0
c.65_67dupGCG
1 paper
NM_001160148.2
p.G19V
c.56G>T
1 paper
NM_001160148.2
p.E62K
c.184G>A
1 paper
NM_001160148.2
p.P63S
c.187C>T
1 paper
NM_001160148.2
p.L78L
c.234C>G
1 paper
NM_001160148.2
p.L80L
c.238C>T
1 paper
NM_001160148.2
p.D81Y
c.241G>T
1 paper
NM_001160148.2
p.P82delFs
c.246delG
1 paper
NM_001160148.2
p.L84L
c.252C>T
1 paper
NM_001160148.2
p.Y89C
c.266A>G
1 paper
NM_001160148.2
p.F91F
c.273C>T
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