Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.A50T

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.A50T
c.148G>A
Surrounding Variants
1 paper
NM_058179.4
p.A50S
c.148G>T
1 paper
NM_058179.4
p.A50D
c.149C>A
1 paper
NM_058179.4
p.A50G
c.149C>G
1 paper
NM_058179.4
p.A50V
c.149C>T
1 paper
NM_058179.4
p.F49L
c.147T>A
1 paper
NM_058179.4
p.F49L
c.147T>G
1 paper
NM_058179.4
p.F49Y
c.146T>A
1 paper
NM_058179.4
p.F49S
c.146T>C
1 paper
NM_058179.4
p.F49C
c.146T>G
1 paper
NM_058179.4
p.K51Q
c.151A>C
1 paper
NM_058179.4
p.F49L
c.145T>C
1 paper
NM_058179.4
p.F49V
c.145T>G
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