Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.Q361K

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.Q361K
c.1081C>A
Surrounding Variants
2 papers
NM_016335.6
p.D364N
c.1090G>A
1 paper
NM_016335.6
p.E353_L354del2
c.1057_1061del6
1 paper
NM_016335.6
p.S346F
c.1037C>T
1 paper
NM_016335.6
p.E342delFs
c.1024delC
1 paper
NM_016335.6
p.K368_K369Splc
c.1105-14C>T
1 paper
NM_016335.6
p.E372A
c.1115A>C
1 paper
NM_016335.6
p.V375A
c.1124T>C
1 paper
NM_016335.6
p.E382K
c.1144G>A
3 papers
NM_016335.6
p.Y385F
c.1154A>T
1 paper
NM_016335.6
p.Q387*
c.1159C>T
1 paper
NM_016335.6
p.S391S
c.1173C>T
1 paper
NM_016335.6
p.R392L
c.1175G>T
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