Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.D100N

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.D100N
c.298G>A
Surrounding Variants
1 paper
NM_058179.4
p.D100H
c.298G>C
1 paper
NM_058179.4
p.D100Y
c.298G>T
10 papers
NM_058179.4
p.D100A
c.299A>C
1 paper
NM_058179.4
p.D100G
c.299A>G
1 paper
NM_058179.4
p.D100V
c.299A>T
2 papers
NM_058179.4
p.A99A
c.297T>G
1 paper
NM_058179.4
p.A99D
c.296C>A
1 paper
NM_058179.4
p.D100E
c.300C>A
1 paper
NM_058179.4
p.A99G
c.296C>G
1 paper
NM_058179.4
p.D100E
c.300C>G
17 papers
NM_058179.4
p.A99V
c.296C>T
3 papers
NM_058179.4
p.A99delins
c.296_297delinsTG
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