Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.L566P

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.L566P
c.1697T>C
Surrounding Variants
1 paper
NM_016335.6
p.R563H
c.1688G>A
1 paper
NM_016335.6
p.G574S
c.1720G>A
1 paper
NM_016335.6
p.E556*
c.1666G>T
1 paper
NM_016335.6
p.E578K
c.1732G>A
1 paper
NM_016335.6
p.V554L
c.1660G>T
1 paper
NM_016335.6
p.V554L
c.1660G>C
1 paper
NM_016335.6
p.V554M
c.1660G>A
2 papers
NM_016335.6
p.L581L
c.1741C>T
1 paper
NM_016335.6
p.P550S
c.1648C>T
1 paper
NM_016335.6
p.V549M
c.1645G>A
1 paper
NM_016335.6
p.P544S
c.1630C>T
1 paper
NM_016335.6
p.R591P
c.1772G>C
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