Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.S178C

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.S178C
c.533C>G
Surrounding Variants
1 paper
NM_058179.4
p.S178Y
c.533C>A
1 paper
NM_058179.4
p.S178F
c.533C>T
1 paper
NM_058179.4
p.S178T
c.532T>A
1 paper
NM_058179.4
p.S178P
c.532T>C
1 paper
NM_058179.4
p.S179T
c.535T>A
1 paper
NM_058179.4
p.S179P
c.535T>C
1 paper
NM_058179.4
p.S179A
c.535T>G
8 papers
NM_058179.4
p.S179L
c.536C>T
1 paper
NM_058179.4
p.M177K
c.530T>A
1 paper
NM_058179.4
p.M177T
c.530T>C
1 paper
NM_058179.4
p.M177V
c.529A>G
1 paper
NM_058179.4
p.N180H
c.538A>C
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