Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1

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
1–12 of 1420 variants
17 papers
NM_058179.4
p.A99V
c.296C>T
10 papers
NM_058179.4
p.A15P
c.43G>C
10 papers
NM_058179.4
p.D100A
c.299A>C
9 papers
NM_058179.4
p.S43R
c.129T>G
9 papers
NM_058179.4
p.T156M
c.467C>T
8 papers
NM_058179.4
p.S43R
c.127A>C
8 papers
NM_058179.4
p.S43R
c.129T>A
8 papers
NM_058179.4
p.S179L
c.536C>T
7 papers
NM_058179.4
p.G79W
c.235G>T
6 papers
NM_058179.4
p.A15V
c.44C>T
6 papers
NM_058179.4
p.R61W
c.181C>T
6 papers
NM_058179.4
p.P144delFs
c.432delA
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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."