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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSPH

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 109 variants

24 papers

chr7:56019607 C>T

NM_004577.4

p.G90S

c.268G>A

Hydrolase

Exome: 3.2% (AC=37619, hom=0)Genome: 25.0% (AC=33835, hom=0)87 overlapping SVs

14 papers

chr7:56019681 C>T

NM_004577.4

p.R65H

c.194G>A

Hydrolase

Exome: 3.7% (AC=40829, hom=0)Genome: 26.1% (AC=36505, hom=0)87 overlapping SVs

12 papers

chr7:56019626 T>A

NM_004577.4

p.Q83H

c.249A>T

Hydrolase

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)87 overlapping SVs

12 papers

chr7:56019626 T>G

NM_004577.4

p.Q83H

c.249A>C

Hydrolase

Exome: 3.9% (AC=45267, hom=0)Genome: 25.8% (AC=35793, hom=0)87 overlapping SVs

11 papers

chr7:56019672 A>G

NM_004577.4

p.L68P

c.203T>C

Hydrolase

Exome: 4.1% (AC=45871, hom=0)Genome: 26.0% (AC=36187, hom=0)87 overlapping SVs

10 papers

chr7:56021118 T>C

NM_004577.4

p.D32G

c.95A>G

Hydrolase

Exome: 5.6% (AC=61702, hom=0)Genome: 18.8% (AC=21838, hom=0)85 overlapping SVs

8 papers

chr7:56021209 C>T

NM_004577.4

p.V2I

c.4G>A

Exome: 4.6% (AC=49506, hom=0)Genome: 21.1% (AC=25393, hom=0)85 overlapping SVs

8 papers

chr7:56021119 C>T

NM_004577.4

p.D32N

c.94G>A

Hydrolase

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=72, hom=0)85 overlapping SVs

6 papers

chr7:56019720 A>G

NM_004577.4

p.M52T

c.155T>C

Hydrolase

Exome: 0.0% (AC=4, hom=0)Genome: n/a87 overlapping SVs

5 papers

chr7:56021132 T>A

NM_004577.4

p.R27S

c.81A>T

Hydrolase

Exome: 6.7% (AC=73572, hom=0)Genome: 20.1% (AC=24060, hom=0)85 overlapping SVs

5 papers

chr7:56021132 T>G

NM_004577.4

p.R27S

c.81A>C

Hydrolase

exact variant not in gnomAD85 overlapping SVs

4 papers

chr7:56021110 C>T

NM_004577.4

p.A35T

c.103G>A

Hydrolase

exact variant not in gnomAD85 overlapping SVs

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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."