Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.G6R

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.G6R
c.16G>C
Surrounding Variants
1 paper
NM_003124.5
p.G6R
c.16G>A
1 paper
NM_003124.5
p.G6_R7insFs
c.18_19ins10
1 paper
NM_003124.5
p.L5_G6ins10
c.13_17ins30
1 paper
NM_003124.5
p.R7fs
c.19_20fs
3 papers
NM_003124.5
p.G4G
c.12G>C
1 paper
NM_003124.5
p.A8D
c.23C>A
1 paper
NM_003124.5
p.G3A
c.8G>C
1 paper
NM_003124.5
p.V9fs
c.25_26fs
1 paper
NM_003124.5
p.V9fs
c.25_26fs
1 paper
NM_003124.5
p.E2D
c.6G>T
1 paper
NM_003124.5
p.V9E
c.26T>A
1 paper
NM_003124.5
p.E2insFs
c.5_6ins10
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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."