Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.V375A

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.V375A
c.1124T>C
Surrounding Variants
1 paper
NM_016335.6
p.E372A
c.1115A>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.K368_K369Splc
c.1105-14C>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
3 papers
NM_016335.6
p.R399W
c.1195C>T
1 paper
NM_016335.6
p.N402Y
c.1204A>T
7 papers
NM_016335.6
p.P406L
c.1217C>T
1 paper
NM_016335.6
p.K417N
c.1251G>C
2 papers
NM_016335.6
p.D364N
c.1090G>A
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