Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.S305fs

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
4 papers
NM_001160148.2
p.S305fs
c.913_914fs
Surrounding Variants
1 paper
NM_001160148.2
p.S305I
c.914G>T
6 papers
NM_001160148.2
p.S305_N306delFs
c.914_917del4
1 paper
NM_001160148.2
p.Q290R
c.869A>G
1 paper
NM_001160148.2
p.G289R
c.865G>C
1 paper
NM_001160148.2
p.G289R
c.865G>A
1 paper
NM_001160148.2
p.R288C
c.862C>T
1 paper
NM_001160148.2
p.Q322R
c.965A>G
1 paper
NM_001160148.2
p.D326H
c.976G>C
1 paper
NM_001160148.2
p.K336_D337insGG
c.1006_1010ins6
5 papers
NM_001160148.2
p.K336_D337insGGC
c.1006_1010ins9
5 papers
NM_001160148.2
p.K336_D337ins6
c.1006_1010ins18
2 papers
NM_001160148.2
p.D337_A338insGGC
c.1009_1013ins9
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