Varaico: Literature-Extracted Genetic Variants

Gene:PRODH

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
1–12 of 224 variants
40 papers
NM_016335.6
p.L441P
c.1322T>C
27 papers
NM_016335.6
p.R453C
c.1357C>T
24 papers
NM_016335.6
p.R431H
c.1292G>A
19 papers
NM_016335.6
p.T466M
c.1397C>T
17 papers
NM_016335.6
p.L289M
c.865T>A
13 papers
NM_016335.6
p.V427M
c.1279G>A
11 papers
NM_016335.6
p.K158*
c.472A>T
11 papers
NM_016335.6
p.A472T
c.1414G>A
9 papers
NM_016335.6
p.R521Q
c.1562G>A
8 papers
NM_016335.6
p.T275N
c.824C>A
8 papers
NM_016335.6
p.A455S
c.1363G>T
7 papers
NM_016335.6
p.P406L
c.1217C>T
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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."