Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.V124D

PSAT1

336 papers

RefSeq Summary

This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with...

Pfam Domains

Aminotran_5aa 7–357UCSCAminotransferase class-V

Gene Aliases

HGNC Name

phosphoserine aminotransferase 1

HGNC Alias Symbol

PSA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_058179.4
p.V124D
c.371T>A
Surrounding Variants
1 paper
NM_058179.4
p.V124A
c.371T>C
1 paper
NM_058179.4
p.V124G
c.371T>G
1 paper
NM_058179.4
p.V124I
c.370G>A
1 paper
NM_058179.4
p.V124L
c.370G>C
1 paper
NM_058179.4
p.V124F
c.370G>T
1 paper
NM_058179.4
p.H125insFs
c.373dupC
1 paper
NM_058179.4
p.H125D
c.373C>G
1 paper
NM_058179.4
p.H125P
c.374A>C
1 paper
NM_058179.4
p.H125L
c.374A>T
3 papers
NM_058179.4
p.I123V
c.367A>G
1 paper
NM_058179.4
p.I123F
c.367A>T
1 paper
NM_058179.4
p.P126A
c.376C>G
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