Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.Q417*

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
5 papers
NM_001160148.2
p.Q417*
c.1249C>T
Surrounding Variants
1 paper
NM_001160148.2
p.I415delFs
c.1243delT
1 paper
NM_001160148.2
p.T405_H407delFs
c.1215_1219del5
2 papers
NM_001160148.2
p.V393A
c.1178T>C
1 paper
NM_001160148.2
p.R390G
c.1168A>G
1 paper
NM_001160148.2
p.R387S
c.1161A>T
1 paper
NM_001160148.2
p.R387S
c.1161A>C
1 paper
NM_001160148.2
p.R387I
c.1160G>T
1 paper
NM_001160148.2
p.F378Y
c.1133T>A
1 paper
NM_001160148.2
p.G377G
c.1131A>G
1 paper
NM_001160148.2
p.L376L
c.1128G>A
1 paper
NM_001160148.2
p.Q374K
c.1120C>A
2 papers
NM_001160148.2
p.T371A
c.1111A>G
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