Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.R45M

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.R45M
c.134G>T
Surrounding Variants
1 paper
NM_058179.4
p.R45K
c.134G>A
1 paper
NM_058179.4
p.R45T
c.134G>C
1 paper
NM_058179.4
p.R45G
c.133A>G
1 paper
NM_058179.4
p.R45W
c.133A>T
1 paper
NM_058179.4
p.R45S
c.135G>C
1 paper
NM_058179.4
p.R45S
c.135G>T
1 paper
NM_058179.4
p.H44Q
c.132C>A
1 paper
NM_058179.4
p.H44Q
c.132C>G
1 paper
NM_058179.4
p.S46T
c.136T>A
1 paper
NM_058179.4
p.S46P
c.136T>C
1 paper
NM_058179.4
p.S46A
c.136T>G
1 paper
NM_058179.4
p.H44P
c.131A>C
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