Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.H19Q

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.H19Q
c.57C>A
Surrounding Variants
1 paper
NM_058179.4
p.H19Q
c.57C>G
1 paper
NM_058179.4
p.H19P
c.56A>C
1 paper
NM_058179.4
p.H19R
c.56A>G
1 paper
NM_058179.4
p.H19L
c.56A>T
1 paper
NM_058179.4
p.S20T
c.58T>A
1 paper
NM_058179.4
p.S20P
c.58T>C
1 paper
NM_058179.4
p.H19N
c.55C>A
1 paper
NM_058179.4
p.S20*
c.59C>A
2 papers
NM_058179.4
p.H19D
c.55C>G
1 paper
NM_058179.4
p.S20*
c.59C>G
1 paper
NM_058179.4
p.H19Y
c.55C>T
1 paper
NM_058179.4
p.S20L
c.59C>T
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