Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.S537A

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.S537A
c.1609T>G
Surrounding Variants
1 paper
NM_001160148.2
p.V531I
c.1591G>A
1 paper
NM_001160148.2
p.Y544H
c.1630T>C
1 paper
NM_001160148.2
p.Y544*
c.1632T>G
1 paper
NM_001160148.2
p.Y544*
c.1632T>A
1 paper
NM_001160148.2
p.D545_I546insFs
c.1635_1636insA
1 paper
NM_001160148.2
p.I546del1
c.1636_1637delTAT
1 paper
NM_001160148.2
p.Y544_T548delFs
c.1630_1643del14
1 paper
NM_001160148.2
p.R520insFs
c.1559_1560insA
1 paper
NM_001160148.2
p.R554W
c.1660C>T
1 paper
NM_001160148.2
p.Q558R
c.1673A>G
1 paper
NM_001160148.2
p.R512L
c.1535G>T
1 paper
NM_001160148.2
p.E565G
c.1694A>G
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