Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.A197P

SPR

284 papers

RefSeq Summary

This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene...

Pfam Domains

adh_shortaa 8–214UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

sepiapterin reductase

HGNC Alias Symbol

SDR38C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003124.5
p.A197P
c.589G>C
Surrounding Variants
1 paper
NM_003124.5
p.Y196C
c.587A>G
1 paper
NM_003124.5
p.G199Splc
c.595+1G>A
1 paper
NM_003124.5
p.G199Splc
c.595+5G>A
1 paper
NM_003124.5
p.G199Splc
c.595+5G>C
1 paper
NM_003124.5
p.V193M
c.577G>A
1 paper
NM_003124.5
p.R192W
c.574A>T
1 paper
NM_003124.5
p.E187A
c.560A>C
1 paper
NM_003124.5
p.E187G
c.560A>G
1 paper
NM_003124.5
p.L186P
c.557T>C
1 paper
NM_003124.5
p.L186L
c.556C>T
1 paper
NM_003124.5
p.A185_E187Fs
c.554_559delinsTGTGFs
1 paper
NM_003124.5
p.D178N
c.532G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."