Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.H335Q

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.H335Q
c.1005T>A
Surrounding Variants
1 paper
NM_058179.4
p.H335Q
c.1005T>G
1 paper
NM_058179.4
p.H335P
c.1004A>C
1 paper
NM_058179.4
p.H335R
c.1004A>G
1 paper
NM_058179.4
p.H335L
c.1004A>T
1 paper
NM_058179.4
p.H335N
c.1003C>A
1 paper
NM_058179.4
p.H335D
c.1003C>G
1 paper
NM_058179.4
p.H335Y
c.1003C>T
1 paper
NM_058179.4
p.R336M
c.1007G>T
1 paper
NM_058179.4
p.G334E
c.1001G>A
1 paper
NM_058179.4
p.G334V
c.1001G>T
1 paper
NM_058179.4
p.G334R
c.1000G>A
1 paper
NM_058179.4
p.G334R
c.1000G>C
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