Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.V174D

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.V174D
c.521T>A
Surrounding Variants
1 paper
NM_058179.4
p.V174G
c.521T>G
1 paper
NM_058179.4
p.V174L
c.520G>C
1 paper
NM_058179.4
p.V174F
c.520G>T
1 paper
NM_058179.4
p.C175S
c.523T>A
1 paper
NM_058179.4
p.C175R
c.523T>C
2 papers
NM_058179.4
p.C175Y
c.524G>A
1 paper
NM_058179.4
p.C175S
c.524G>C
1 paper
NM_058179.4
p.C175F
c.524G>T
1 paper
NM_058179.4
p.L173P
c.518T>C
1 paper
NM_058179.4
p.C175W
c.525T>G
1 paper
NM_058179.4
p.D176N
c.526G>A
1 paper
NM_058179.4
p.D176H
c.526G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."