Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.N180I

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.N180I
c.539A>T
Surrounding Variants
1 paper
NM_058179.4
p.N180H
c.538A>C
1 paper
NM_058179.4
p.N180Y
c.538A>T
2 papers
NM_058179.4
p.N180K
c.540C>A
2 papers
NM_058179.4
p.N180K
c.540C>G
1 paper
NM_058179.4
p.F181I
c.541T>A
1 paper
NM_058179.4
p.F181L
c.541T>C
1 paper
NM_058179.4
p.F181V
c.541T>G
8 papers
NM_058179.4
p.S179L
c.536C>T
1 paper
NM_058179.4
p.F181Y
c.542T>A
1 paper
NM_058179.4
p.F181S
c.542T>C
1 paper
NM_058179.4
p.F181C
c.542T>G
1 paper
NM_058179.4
p.F181L
c.543C>A
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