Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.V286D

PRODH

215 papers

RefSeq Summary

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 ...

Pfam Domains

Pro_dhaa 19–469UCSCProline dehydrogenase

Gene Aliases

HGNC Name

proline dehydrogenase 1

HGNC Alias Symbols

HSPOX2; PRODH1; PIG6; TP53I6; POX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016335.6
p.V286D
c.857T>A
Surrounding Variants
1 paper
NM_016335.6
p.E284_S285delFs
c.852_855del4
1 paper
NM_016335.6
p.A287P
c.859G>C
17 papers
NM_016335.6
p.L289M
c.865T>A
1 paper
NM_016335.6
p.G290D
c.869G>A
1 paper
NM_016335.6
p.G290delFs
c.868delC
1 paper
NM_016335.6
p.E298K
c.892G>A
1 paper
NM_016335.6
p.D299Y
c.895G>T
1 paper
NM_016335.6
p.A303V
c.908C>T
1 paper
NM_016335.6
p.V308insFs
c.922_923insA
1 paper
NM_016335.6
p.V308M
c.922G>A
1 paper
NM_016335.6
p.Q283_E284Splc
c.849+29T>C
1 paper
NM_016335.6
p.Q283_E284Splc
c.849+23C>T
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."