Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.L80L

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.L80L
c.238C>T
Surrounding Variants
1 paper
NM_001160148.2
p.D81Y
c.241G>T
1 paper
NM_001160148.2
p.L78L
c.234C>G
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
1 paper
NM_001160148.2
p.P63S
c.187C>T
1 paper
NM_001160148.2
p.E62K
c.184G>A
1 paper
NM_001160148.2
p.G112_S113insGG
c.334_338ins6
1 paper
NM_001160148.2
p.G112_S113insFs
c.336_337insGG
5 papers
NM_001160148.2
p.G112_S113ins1
c.336_337insGGC
5 papers
NM_001160148.2
p.G112_S113ins2
c.336_337ins6
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