Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.L327P

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.L327P
c.980T>C
Surrounding Variants
2 papers
NM_058179.4
p.L327H
c.980T>A
1 paper
NM_058179.4
p.L327I
c.979C>A
1 paper
NM_058179.4
p.N328Y
c.982A>T
1 paper
NM_058179.4
p.N328S
c.983A>G
1 paper
NM_058179.4
p.N328I
c.983A>T
1 paper
NM_058179.4
p.E326Q
c.976G>C
1 paper
NM_058179.4
p.N328K
c.984T>A
1 paper
NM_058179.4
p.N328K
c.984T>G
1 paper
NM_058179.4
p.M329V
c.985A>G
1 paper
NM_058179.4
p.L325H
c.974T>A
1 paper
NM_058179.4
p.M329R
c.986T>G
1 paper
NM_058179.4
p.M329I
c.987G>A
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