Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.K16E

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.K16E
c.46A>G
Surrounding Variants
1 paper
NM_058179.4
p.K16Q
c.46A>C
1 paper
NM_058179.4
p.K16T
c.47A>C
1 paper
NM_058179.4
p.K16R
c.47A>G
1 paper
NM_058179.4
p.K16M
c.47A>T
1 paper
NM_058179.4
p.A15D
c.44C>A
6 papers
NM_058179.4
p.A15V
c.44C>T
1 paper
NM_058179.4
p.K16N
c.48G>C
1 paper
NM_058179.4
p.K16N
c.48G>T
1 paper
NM_058179.4
p.L17M
c.49C>A
1 paper
NM_058179.4
p.L17V
c.49C>G
1 paper
NM_058179.4
p.A15T
c.43G>A
10 papers
NM_058179.4
p.A15P
c.43G>C
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