Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.K94E

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.K94E
c.280A>G
Surrounding Variants
1 paper
NM_058179.4
p.K94I
c.281A>T
1 paper
NM_058179.4
p.L93S
c.278T>C
1 paper
NM_058179.4
p.L93M
c.277T>A
1 paper
NM_058179.4
p.G92A
c.275G>C
1 paper
NM_058179.4
p.G92V
c.275G>T
1 paper
NM_058179.4
p.G92S
c.274G>A
2 papers
NM_058179.4
p.G92C
c.274G>T
1 paper
NM_058179.4
p.G96E
c.287G>A
1 paper
NM_058179.4
p.I91T
c.272T>C
1 paper
NM_058179.4
p.I91S
c.272T>G
1 paper
NM_058179.4
p.I91V
c.271A>G
1 paper
NM_058179.4
p.R97G
c.289A>G
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