Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.E114V

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.E114V
c.341A>T
Surrounding Variants
1 paper
NM_058179.4
p.E114A
c.341A>C
1 paper
NM_058179.4
p.E114K
c.340G>A
1 paper
NM_058179.4
p.E114Q
c.340G>C
1 paper
NM_058179.4
p.A115T
c.343G>A
1 paper
NM_058179.4
p.E113V
c.338A>T
1 paper
NM_058179.4
p.A115D
c.344C>A
1 paper
NM_058179.4
p.A115V
c.344C>T
1 paper
NM_058179.4
p.K116R
c.347A>G
1 paper
NM_058179.4
p.A112E
c.335C>A
1 paper
NM_058179.4
p.A112T
c.334G>A
1 paper
NM_058179.4
p.A112P
c.334G>C
1 paper
NM_058179.4
p.K117E
c.349A>G
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