Varaico: Literature-Extracted Genetic Variants

Gene:PSAT1
Variant:p.E317D

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.E317D
c.951A>T
Surrounding Variants
1 paper
NM_058179.4
p.E317D
c.951A>C
1 paper
NM_058179.4
p.E317G
c.950A>G
1 paper
NM_058179.4
p.K318E
c.952A>G
1 paper
NM_058179.4
p.K318R
c.953A>G
1 paper
NM_058179.4
p.E317K
c.949G>A
1 paper
NM_058179.4
p.E317Q
c.949G>C
2 papers
NM_058179.4
p.R319delFs
c.955delA
1 paper
NM_058179.4
p.L316F
c.948A>C
1 paper
NM_058179.4
p.L316F
c.948A>T
1 paper
NM_058179.4
p.R319G
c.955A>G
3 papers
NM_058179.4
p.R319fs
c.955_956fs
1 paper
NM_058179.4
p.L316S
c.947T>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."