Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.M1K

PTDSS1

57 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated ...

Pfam Domains

PSSaa 96–372UCSCPhosphatidyl serine synthase

Gene Aliases

HGNC Name

phosphatidylserine synthase 1

HGNC Alias Symbols

KIAA0024; PSSA; PSS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014754.3
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_014754.3
p.M1R
c.2T>G
1 paper
NM_014754.3
p.M1insFs
c.2dupT
1 paper
NM_014754.3
p.M1L
c.1A>T
1 paper
NM_014754.3
p.M1delFs
c.2_3delTG
1 paper
NM_014754.3
p.M1I
c.3G>C
1 paper
NM_014754.3
p.A2_S3del2
c.4_8del6
1 paper
NM_014754.3
p.G6insFs
c.16_17dupGG
1 paper
NM_014754.3
p.V5V
c.15G>T
1 paper
NM_014754.3
p.G6W
c.16G>T
1 paper
NM_014754.3
p.H20N
c.58C>A
1 paper
NM_014754.3
p.H20R
c.59A>G
1 paper
NM_014754.3
p.E26_Q27insFs
c.78_79insC
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