Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1

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
1–12 of 178 variants
6 papers
NM_001160148.2
p.S305_N306delFs
c.914_917del4
5 papers
NM_001160148.2
p.G112_S113ins1
c.336_337insGGC
5 papers
NM_001160148.2
p.G112_S113ins2
c.336_337ins6
5 papers
NM_001160148.2
p.K336_D337insGGC
c.1006_1010ins9
5 papers
NM_001160148.2
p.K336_D337ins6
c.1006_1010ins18
5 papers
NM_001160148.2
p.Q417*
c.1249C>T
5 papers
NM_001160148.2
p.S495G
c.1483A>G
5 papers
NM_001160148.2
p.R589Q
c.1766G>A
5 papers
NM_001160148.2
p.R589Q
c.1766G>A
4 papers
NM_001160148.2
p.S305fs
c.913_914fs
4 papers
NM_001160148.2
p.D474_K475insFs
c.1422_1423insA
4 papers
NM_001160148.2
p.R477*
c.1429C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."