Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.V118delFs

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.V118delFs
c.353_354delTA
Surrounding Variants
1 paper
NM_016335.6
p.G120R
c.358G>C
1 paper
NM_016335.6
p.G120R
c.358G>A
1 paper
NM_016335.6
p.H116_G120del5
c.346_359del15
1 paper
NM_016335.6
p.H116delins
c.347_348delinsTGAAA
1 paper
NM_016335.6
p.Q123*
c.367C>T
1 paper
NM_016335.6
p.S125F
c.374C>T
1 paper
NM_016335.6
p.T112I
c.335C>T
1 paper
NM_016335.6
p.R131Q
c.392G>A
1 paper
NM_016335.6
p.H132Y
c.394C>T
1 paper
NM_016335.6
p.R103S
c.309G>T
1 paper
NM_016335.6
p.R103S
c.309G>C
1 paper
NM_016335.6
p.A135S
c.403G>T
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