Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.Q283_E284Splc

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.Q283_E284Splc
c.849+23C>T
Surrounding Variants
1 paper
NM_016335.6
p.Q283_E284Splc
c.849+29T>C
8 papers
NM_016335.6
p.T275N
c.824C>A
1 paper
NM_016335.6
p.M273K
c.818T>A
1 paper
NM_016335.6
p.A262T
c.784G>A
1 paper
NM_016335.6
p.W254R
c.760T>C
1 paper
NM_016335.6
p.V250insFs
c.749dupT
1 paper
NM_016335.6
p.V250A
c.749T>C
1 paper
NM_016335.6
p.F247del1
c.739_741delGAA
1 paper
NM_016335.6
p.L244L
c.732G>A
1 paper
NM_016335.6
p.F243_L244insFs
c.729_730insTT
1 paper
NM_016335.6
p.R240T
c.719G>C
1 paper
NM_016335.6
p.A237insFs
c.710_711ins13
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