Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.R150G

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
26 papers
NM_003124.5
p.R150G
c.448A>G
Surrounding Variants
3 papers
NM_003124.5
p.R150fs
c.448_449fs
1 paper
NM_003124.5
p.N149fs
c.445_446fs
1 paper
NM_003124.5
p.T151fs
c.451_452fs
4 papers
NM_003124.5
p.R150_T151delFs
c.448_452del5
2 papers
NM_003124.5
p.D144H
c.430G>C
1 paper
NM_003124.5
p.S156T
c.466T>A
1 paper
NM_003124.5
p.S156A
c.466T>G
1 paper
NM_003124.5
p.S156W
c.467C>G
1 paper
NM_003124.5
p.F142L
c.426C>A
1 paper
NM_003124.5
p.L158I
c.472C>A
1 paper
NM_003124.5
p.A141S
c.421G>T
1 paper
NM_003124.5
p.K140N
c.420G>C
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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."