Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.D68V

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.D68V
c.203A>T
Surrounding Variants
1 paper
NM_058179.4
p.D68A
c.203A>C
1 paper
NM_058179.4
p.D68G
c.203A>G
1 paper
NM_058179.4
p.D68E
c.204C>A
2 papers
NM_058179.4
p.N69insFs
c.205_206insA
1 paper
NM_058179.4
p.D68E
c.204C>G
1 paper
NM_058179.4
p.D68N
c.202G>A
1 paper
NM_058179.4
p.D68H
c.202G>C
1 paper
NM_058179.4
p.D68Y
c.202G>T
1 paper
NM_058179.4
p.N69H
c.205A>C
1 paper
NM_058179.4
p.N69D
c.205A>G
1 paper
NM_058179.4
p.N69Y
c.205A>T
1 paper
NM_058179.4
p.N69T
c.206A>C
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