Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.K71N

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.K71N
c.213G>T
Surrounding Variants
1 paper
NM_058179.4
p.K71N
c.213G>C
1 paper
NM_058179.4
p.K71T
c.212A>C
1 paper
NM_058179.4
p.K71R
c.212A>G
1 paper
NM_058179.4
p.K71M
c.212A>T
1 paper
NM_058179.4
p.V72M
c.214G>A
1 paper
NM_058179.4
p.V72L
c.214G>C
1 paper
NM_058179.4
p.V72L
c.214G>T
1 paper
NM_058179.4
p.K71Q
c.211A>C
1 paper
NM_058179.4
p.K71E
c.211A>G
1 paper
NM_058179.4
p.V72E
c.215T>A
1 paper
NM_058179.4
p.V72A
c.215T>C
1 paper
NM_058179.4
p.V72G
c.215T>G
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