Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.C235_G236insFs

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.C235_G236insFs
c.705_706insAC
Surrounding Variants
1 paper
NM_001160148.2
p.R233R
c.699C>G
1 paper
NM_001160148.2
p.Q239_S240insFs
c.717_718insAC
1 paper
NM_001160148.2
p.D229Fs
c.686delinsGTAGAACCCAACCTGGCTFs
1 paper
NM_001160148.2
p.D229fs
c.685_686fs
1 paper
NM_001160148.2
p.H244_E245insFs
c.732_733insCA
1 paper
NM_001160148.2
p.P218_T219Fs
c.654_655delinsGFs
1 paper
NM_001160148.2
p.V266M
c.796G>A
1 paper
NM_001160148.2
p.P205L
c.614C>T
1 paper
NM_001160148.2
p.R195Q
c.584G>A
1 paper
NM_001160148.2
p.R189S
c.565C>A
1 paper
NM_001160148.2
p.G184R
c.550G>C
1 paper
NM_001160148.2
p.G184S
c.550G>A
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