Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.S43R

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
8 papers
NM_058179.4
p.S43R
c.127A>C
Surrounding Variants
1 paper
NM_058179.4
p.S43G
c.127A>G
1 paper
NM_058179.4
p.S43C
c.127A>T
1 paper
NM_058179.4
p.M42I
c.126G>A
1 paper
NM_058179.4
p.M42I
c.126G>C
1 paper
NM_058179.4
p.S43T
c.128G>C
1 paper
NM_058179.4
p.M42I
c.126G>T
1 paper
NM_058179.4
p.S43I
c.128G>T
8 papers
NM_058179.4
p.S43R
c.129T>A
1 paper
NM_058179.4
p.M42K
c.125T>A
1 paper
NM_058179.4
p.M42T
c.125T>C
9 papers
NM_058179.4
p.S43R
c.129T>G
1 paper
NM_058179.4
p.M42R
c.125T>G
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