Varaico: Literature-Extracted Genetic Variants

Gene:PSPH
Variant:p.D22E

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.D22E
c.66C>G
Surrounding Variants
1 paper
NM_004577.4
p.D22E
c.66C>A
1 paper
NM_004577.4
p.S23T
c.68G>C
1 paper
NM_004577.4
p.D22N
c.64G>A
2 papers
NM_004577.4
p.T24M
c.71C>T
2 papers
NM_004577.4
p.D20E
c.60T>G
2 papers
NM_004577.4
p.D20E
c.60T>A
1 paper
NM_004577.4
p.D20N
c.58G>A
1 paper
NM_004577.4
p.F19Y
c.56T>A
1 paper
NM_004577.4
p.R27T
c.80G>C
5 papers
NM_004577.4
p.R27S
c.81A>T
5 papers
NM_004577.4
p.R27S
c.81A>C
1 paper
NM_004577.4
p.A16T
c.46G>A
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