Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.N302H

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.N302H
c.904A>C
Surrounding Variants
1 paper
NM_058179.4
p.N302D
c.904A>G
1 paper
NM_058179.4
p.N302Y
c.904A>T
2 papers
NM_058179.4
p.N302S
c.905A>G
1 paper
NM_058179.4
p.N302K
c.906T>A
1 paper
NM_058179.4
p.N302K
c.906T>G
1 paper
NM_058179.4
p.M301L
c.901A>C
1 paper
NM_058179.4
p.I303V
c.907A>G
1 paper
NM_058179.4
p.I303F
c.907A>T
1 paper
NM_058179.4
p.I303N
c.908T>A
1 paper
NM_058179.4
p.I303T
c.908T>C
1 paper
NM_058179.4
p.I303S
c.908T>G
1 paper
NM_058179.4
p.K300T
c.899A>C
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