Varaico: Literature-Extracted Genetic Variants

Gene:DDHD1
Variant:p.G133fs

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
2 papers
NM_001160148.2
p.G133fs
c.397_398fs
Surrounding Variants
3 papers
NM_001160148.2
p.G132insFs
c.395dupG
1 paper
NM_001160148.2
p.G137E
c.410G>A
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.H118H
c.354C>T
1 paper
NM_001160148.2
p.S116L
c.347C>T
1 paper
NM_001160148.2
p.G150_P151delFs
c.448_451del4
1 paper
NM_001160148.2
p.P151P
c.453G>A
1 paper
NM_001160148.2
p.S114P
c.340T>C
1 paper
NM_001160148.2
p.A152T
c.454G>A
1 paper
NM_001160148.2
p.S113G
c.337A>G
2 papers
NM_001160148.2
p.S113ins1
c.337_338insGGC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."