Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.V188D

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.V188D
c.563T>A
Surrounding Variants
1 paper
NM_058179.4
p.V188A
c.563T>C
1 paper
NM_058179.4
p.V188G
c.563T>G
1 paper
NM_058179.4
p.V188F
c.562G>T
1 paper
NM_058179.4
p.S189P
c.565T>C
1 paper
NM_058179.4
p.D187A
c.560A>C
1 paper
NM_058179.4
p.D187G
c.560A>G
1 paper
NM_058179.4
p.D187V
c.560A>T
1 paper
NM_058179.4
p.S189F
c.566C>T
1 paper
NM_058179.4
p.D187N
c.559G>A
1 paper
NM_058179.4
p.D187H
c.559G>C
1 paper
NM_058179.4
p.D187Y
c.559G>T
1 paper
NM_058179.4
p.K190Q
c.568A>C
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