Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.G112_S113insFs

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.G112_S113insFs
c.336_337insGG
Surrounding Variants
5 papers
NM_001160148.2
p.G112_S113ins1
c.336_337insGGC
5 papers
NM_001160148.2
p.G112_S113ins2
c.336_337ins6
1 paper
NM_001160148.2
p.S113G
c.337A>G
2 papers
NM_001160148.2
p.S113ins1
c.337_338insGGC
2 papers
NM_001160148.2
p.S113ins2
c.337_338ins6
1 paper
NM_001160148.2
p.G112_S113insGG
c.334_338ins6
1 paper
NM_001160148.2
p.S114P
c.340T>C
1 paper
NM_001160148.2
p.S116L
c.347C>T
1 paper
NM_001160148.2
p.H118H
c.354C>T
1 paper
NM_001160148.2
p.P123T
c.367C>A
1 paper
NM_001160148.2
p.V126I
c.376G>A
3 papers
NM_001160148.2
p.G132insFs
c.395dupG
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