Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.P144P

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.P144P
c.432A>T
Surrounding Variants
6 papers
NM_058179.4
p.P144delFs
c.432delA
1 paper
NM_058179.4
p.D145fs
c.433_434fs
3 papers
NM_058179.4
p.D145fs
c.433_434fs
1 paper
NM_058179.4
p.D145V
c.434A>T
2 papers
NM_058179.4
p.P144fs
c.430_431fs
1 paper
NM_058179.4
p.N143K
c.429C>A
1 paper
NM_058179.4
p.N143K
c.429C>G
1 paper
NM_058179.4
p.A146P
c.436G>C
2 papers
NM_058179.4
p.A146D
c.437C>A
1 paper
NM_058179.4
p.A146V
c.437C>T
1 paper
NM_058179.4
p.L142L
c.426C>A
1 paper
NM_058179.4
p.L142H
c.425T>A
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