Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.P295R

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
2 papers
NM_058179.4
p.P295R
c.884C>G
Surrounding Variants
1 paper
NM_058179.4
p.P295L
c.884C>T
1 paper
NM_058179.4
p.Q296P
c.887A>C
1 paper
NM_058179.4
p.Q296H
c.888A>C
1 paper
NM_058179.4
p.Q296H
c.888A>T
1 paper
NM_058179.4
p.N297H
c.889A>C
1 paper
NM_058179.4
p.N297D
c.889A>G
1 paper
NM_058179.4
p.N297T
c.890A>C
6 papers
NM_058179.4
p.V293E
c.878T>A
1 paper
NM_058179.4
p.V293A
c.878T>C
1 paper
NM_058179.4
p.V293M
c.877G>A
1 paper
NM_058179.4
p.V293L
c.877G>C
1 paper
NM_058179.4
p.V293L
c.877G>T
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