Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.E211delFs

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.E211delFs
c.631delG
Surrounding Variants
1 paper
NM_003124.5
p.R210W
c.628C>T
1 paper
NM_003124.5
p.A209A
c.627C>T
1 paper
NM_003124.5
p.E211fs
c.631_632fs
1 paper
NM_003124.5
p.E211A
c.632A>C
1 paper
NM_003124.5
p.E211E
c.633G>A
1 paper
NM_003124.5
p.T212S
c.634A>T
1 paper
NM_003124.5
p.L208_R210del3
c.622_629del9
1 paper
NM_003124.5
p.S213T
c.637T>A
1 paper
NM_003124.5
p.Q206fs
c.616_617fs
2 papers
NM_003124.5
p.Q206fs
c.616_617fs
1 paper
NM_003124.5
p.V214A
c.641T>C
1 paper
NM_003124.5
p.V214V
c.642G>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."