Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.G18G

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.G18G
c.54C>T
Surrounding Variants
1 paper
NM_003124.5
p.G18D
c.53G>A
1 paper
NM_003124.5
p.A15P
c.43G>C
2 papers
NM_003124.5
p.A15fs
c.43_44fs
1 paper
NM_003124.5
p.G14E
c.41G>A
1 paper
NM_003124.5
p.G14R
c.40G>A
1 paper
NM_003124.5
p.G14R
c.40G>C
1 paper
NM_003124.5
p.T13T
c.39C>T
1 paper
NM_003124.5
p.G14delFs
c.40delG
1 paper
NM_003124.5
p.T13insFs
c.37_38insC
2 papers
NM_003124.5
p.P25A
c.73C>G
1 paper
NM_003124.5
p.L26F
c.76C>T
1 paper
NM_003124.5
p.L11M
c.31T>A
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