Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.D2E

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.D2E
c.6C>A
Surrounding Variants
1 paper
NM_058179.4
p.D2E
c.6C>G
1 paper
NM_058179.4
p.D2A
c.5A>C
1 paper
NM_058179.4
p.D2G
c.5A>G
1 paper
NM_058179.4
p.D2V
c.5A>T
1 paper
NM_058179.4
p.A3D
c.8C>A
1 paper
NM_058179.4
p.A3V
c.8C>T
1 paper
NM_058179.4
p.D2N
c.4G>A
1 paper
NM_058179.4
p.D2H
c.4G>C
1 paper
NM_058179.4
p.D2Fs
c.4delinsGCFs
1 paper
NM_058179.4
p.P4T
c.10C>A
1 paper
NM_058179.4
p.P4A
c.10C>G
1 paper
NM_058179.4
p.P4S
c.10C>T
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