Varaico: Literature-Extracted Genetic Variants

Gene:PSPH
Variant:p.L68L

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.L68L
c.204C>A
Surrounding Variants
2 papers
NM_004577.4
p.L68delins
c.203_204delinsCA
11 papers
NM_004577.4
p.L68P
c.203T>C
14 papers
NM_004577.4
p.R65H
c.194G>A
1 paper
NM_004577.4
p.R65G
c.193C>G
1 paper
NM_004577.4
p.L62R
c.185T>G
1 paper
NM_004577.4
p.A60T
c.178G>A
3 papers
NM_004577.4
p.P57S
c.169C>T
1 paper
NM_004577.4
p.V56E
c.167T>A
1 paper
NM_004577.4
p.A81T
c.241G>A
12 papers
NM_004577.4
p.Q83H
c.249A>T
12 papers
NM_004577.4
p.Q83H
c.249A>C
1 paper
NM_004577.4
p.G53R
c.157G>C
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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."