Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.S495G

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.S495G
c.1483A>G
Surrounding Variants
1 paper
NM_001160148.2
p.S495_P496insFs
c.1485_1486insGG
1 paper
NM_001160148.2
p.R499I
c.1496G>T
1 paper
NM_001160148.2
p.R499K
c.1496G>A
2 papers
NM_001160147.2
p.M495V
c.1483A>G
NM_001160148.2
p.M488V
c.1462A>G
1 paper
NM_001160148.2
p.E501_L502Splc
c.1503+6T>A
1 paper
NM_001160148.2
p.L479_D481delFs
c.1435_1441del7
4 papers
NM_001160148.2
p.R477*
c.1429C>T
3 papers
NM_001160148.2
p.V476fs
c.1426_1427fs
4 papers
NM_001160148.2
p.D474_K475insFs
c.1422_1423insA
2 papers
NM_001160148.2
p.I471V
c.1411A>G
1 paper
NM_001160148.2
p.S470T
c.1408T>A
1 paper
NM_001160147.2
p.T474_V475insFs
c.1422_1423insA
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