Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.E62D

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.E62D
c.186A>T
Surrounding Variants
1 paper
NM_058179.4
p.E62D
c.186A>C
1 paper
NM_058179.4
p.E62A
c.185A>C
1 paper
NM_058179.4
p.E62G
c.185A>G
1 paper
NM_058179.4
p.E62V
c.185A>T
1 paper
NM_058179.4
p.L63M
c.187T>A
1 paper
NM_058179.4
p.L63V
c.187T>G
1 paper
NM_058179.4
p.E62K
c.184G>A
1 paper
NM_058179.4
p.E62Q
c.184G>C
1 paper
NM_058179.4
p.L63S
c.188T>C
1 paper
NM_058179.4
p.L63W
c.188T>G
1 paper
NM_058179.4
p.L63F
c.189G>C
1 paper
NM_058179.4
p.L63F
c.189G>T
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