Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.P151P

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.P151P
c.453G>A
Surrounding Variants
1 paper
NM_001160148.2
p.A152T
c.454G>A
1 paper
NM_001160148.2
p.G150_P151delFs
c.448_451del4
1 paper
NM_001160148.2
p.G137E
c.410G>A
1 paper
NM_001160148.2
p.R169delFs
c.507delG
1 paper
NM_001160148.2
p.W170*
c.509G>A
2 papers
NM_001160148.2
p.G133fs
c.397_398fs
1 paper
NM_001160148.2
p.W170*
c.510G>A
3 papers
NM_001160148.2
p.G132insFs
c.395dupG
1 paper
NM_001160148.2
p.V126I
c.376G>A
1 paper
NM_001160148.2
p.P123T
c.367C>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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