Varaico: Literature-Extracted Genetic Variants

Gene:PSPH
Variant:p.Q83H

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
12 papers
NM_004577.4
p.Q83H
c.249A>C
Surrounding Variants
12 papers
NM_004577.4
p.Q83H
c.249A>T
1 paper
NM_004577.4
p.P85R
c.254C>G
1 paper
NM_004577.4
p.A81T
c.241G>A
24 papers
NM_004577.4
p.G90S
c.268G>A
2 papers
NM_004577.4
p.P89delFs
c.267delG
2 papers
NM_004577.4
p.G90fs
c.268_269fs
1 paper
NM_004577.4
p.R92delFs
c.275delC
3 papers
NM_004577.4
p.R92Splc
c.275+10A>G
3 papers
NM_004577.4
p.R92Splc
c.275+13C>G
3 papers
NM_004577.4
p.R92Splc
c.275+15G>T
1 paper
NM_004577.4
p.L68L
c.204C>A
2 papers
NM_004577.4
p.L68delins
c.203_204delinsCA
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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."