Varaico: Literature-Extracted Genetic Variants

Gene:PSPH
Variant:p.S5*

PSPH

160 papers

RefSeq Summary

The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-depende...

Pfam Domains

Hydrolaseaa 14–191UCSChaloacid dehalogenase-like hydrolase

Gene Aliases

HGNC Name

phosphoserine phosphatase

HGNC Previous Symbol

PSP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004577.4
p.S5*
c.14C>G
Surrounding Variants
1 paper
NM_004577.4
p.S5*
c.14C>A
1 paper
NM_004577.4
p.E6E
c.18G>A
1 paper
NM_004577.4
p.S3Y
c.8C>A
1 paper
NM_004577.4
p.S3insFs
c.7_8insGG
8 papers
NM_004577.4
p.V2I
c.4G>A
2 papers
NM_004577.4
p.M1V
c.1A>G
1 paper
NM_004577.4
p.Y12F
c.35A>T
1 paper
NM_004577.4
p.S13insFs
c.37_38insTA
2 papers
NM_004577.4
p.D15H
c.43G>C
1 paper
NM_004577.4
p.A16T
c.46G>A
1 paper
NM_004577.4
p.F19Y
c.56T>A
1 paper
NM_004577.4
p.D20N
c.58G>A
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