Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.D136A

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.D136A
c.407A>C
Surrounding Variants
1 paper
NM_058179.4
p.D136G
c.407A>G
1 paper
NM_058179.4
p.P137T
c.409C>A
1 paper
NM_058179.4
p.P137Q
c.410C>A
1 paper
NM_058179.4
p.P137R
c.410C>G
1 paper
NM_058179.4
p.P135L
c.404C>T
1 paper
NM_058179.4
p.P135T
c.403C>A
2 papers
NM_058179.4
p.P135A
c.403C>G
1 paper
NM_058179.4
p.I134M
c.402T>G
1 paper
NM_058179.4
p.I134N
c.401T>A
1 paper
NM_058179.4
p.I134T
c.401T>C
1 paper
NM_058179.4
p.I134S
c.401T>G
1 paper
NM_058179.4
p.I134L
c.400A>C
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