Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.P67L

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.P67L
c.200C>T
Surrounding Variants
1 paper
NM_058179.4
p.P67Q
c.200C>A
1 paper
NM_058179.4
p.P67R
c.200C>G
1 paper
NM_058179.4
p.P67T
c.199C>A
1 paper
NM_058179.4
p.P67A
c.199C>G
1 paper
NM_058179.4
p.P67S
c.199C>T
1 paper
NM_058179.4
p.D68N
c.202G>A
1 paper
NM_058179.4
p.D68H
c.202G>C
1 paper
NM_058179.4
p.D68Y
c.202G>T
1 paper
NM_058179.4
p.D68A
c.203A>C
1 paper
NM_058179.4
p.D68G
c.203A>G
1 paper
NM_058179.4
p.D68V
c.203A>T
1 paper
NM_058179.4
p.V66D
c.197T>A
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