Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.F378Y

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.F378Y
c.1133T>A
Surrounding Variants
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
1 paper
NM_001160148.2
p.T364A
c.1090A>G
1 paper
NM_001160148.2
p.S361_D362delFs
c.1082_1085del4
1 paper
NM_001160148.2
p.L359R
c.1076T>G
1 paper
NM_001160148.2
p.L359V
c.1075C>G
1 paper
NM_001160148.2
p.V357fs
c.1069_1070fs
1 paper
NM_001160148.2
p.E356insFs
c.1067_1068insGA
1 paper
NM_001160148.2
p.R387I
c.1160G>T
1 paper
NM_001160148.2
p.R387S
c.1161A>T
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