Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.K158*

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
11 papers
NM_016335.6
p.K158*
c.472A>T
Surrounding Variants
1 paper
NM_016335.6
p.K158R
c.473A>G
2 papers
NM_016335.6
p.E156E
c.468G>A
1 paper
NM_016335.6
p.E161K
c.481G>A
1 paper
NM_016335.6
p.D149_L150delFs
c.445_448del4
1 paper
NM_016335.6
p.V146_D149del0
c.436_447del12
1 paper
NM_016335.6
p.Y144Y
c.432T>C
1 paper
NM_016335.6
p.S139S
c.417C>T
1 paper
NM_016335.6
p.A135S
c.403G>T
1 paper
NM_016335.6
p.A135P
c.403G>C
1 paper
NM_016335.6
p.H132Y
c.394C>T
1 paper
NM_016335.6
p.R131Q
c.392G>A
1 paper
NM_016335.6
p.S125F
c.374C>T
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