Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.V38I

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
4 papers
NM_003124.5
p.V38I
c.112G>A
Surrounding Variants
1 paper
NM_003124.5
p.V38D
c.113T>A
1 paper
NM_003124.5
p.V36M
c.106G>A
1 paper
NM_003124.5
p.S40T
c.119G>C
1 paper
NM_003124.5
p.N43Y
c.127A>T
1 paper
NM_003124.5
p.D44A
c.131A>C
1 paper
NM_003124.5
p.D44D
c.132C>T
1 paper
NM_003124.5
p.L30Q
c.89T>A
1 paper
NM_003124.5
p.L30R
c.89T>G
1 paper
NM_003124.5
p.L47L
c.139C>T
1 paper
NM_003124.5
p.Q49*
c.145C>T
1 paper
NM_003124.5
p.L26H
c.77T>A
1 paper
NM_003124.5
p.L26F
c.76C>T
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