Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.V290Splc

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.V290Splc
c.870-1G>A
Surrounding Variants
1 paper
NM_058179.4
p.V290Splc
c.870-1G>T
1 paper
NM_058179.4
p.C291S
c.871T>A
1 paper
NM_058179.4
p.C291R
c.871T>C
1 paper
NM_058179.4
p.C291S
c.872G>C
1 paper
NM_058179.4
p.C291F
c.872G>T
2 papers
NM_058179.4
p.P292A
c.874C>G
1 paper
NM_058179.4
p.P292S
c.874C>T
1 paper
NM_058179.4
p.P292Q
c.875C>A
1 paper
NM_058179.4
p.P292R
c.875C>G
2 papers
NM_058179.4
p.P292L
c.875C>T
1 paper
NM_058179.4
p.V293M
c.877G>A
1 paper
NM_058179.4
p.V293L
c.877G>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."