Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.R453fs

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.R453fs
c.1357_1358fs
Surrounding Variants
27 papers
NM_016335.6
p.R453C
c.1357C>T
1 paper
NM_016335.6
p.A454V
c.1361C>T
8 papers
NM_016335.6
p.A455S
c.1363G>T
1 paper
NM_016335.6
p.A445_A448del4
c.1333_1343del12
1 paper
NM_016335.6
p.A448S
c.1342G>T
1 paper
NM_016335.6
p.C436_L447del12
c.1306_1340del36
1 paper
NM_016335.6
p.Y446H
c.1336T>C
2 papers
NM_016335.6
p.G444D
c.1331G>A
40 papers
NM_016335.6
p.L441P
c.1322T>C
19 papers
NM_016335.6
p.T466M
c.1397C>T
1 paper
NM_016335.6
p.E468D
c.1404G>T
1 paper
NM_016335.6
p.E468D
c.1404G>C
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