Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.D69E

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
3 papers
NM_003124.5
p.D69E
c.207C>A
Surrounding Variants
5 papers
NM_003124.5
p.D69E
c.207C>G
1 paper
NM_003124.5
p.L70del1
c.208_210delCTG
1 paper
NM_003124.5
p.D69V
c.206A>T
1 paper
NM_003124.5
p.L70Q
c.209T>A
3 papers
NM_003124.5
p.P67L
c.200C>T
1 paper
NM_003124.5
p.A74delFs
c.220_221delGC
1 paper
NM_003124.5
p.A74fs
c.220_221fs
1 paper
NM_003124.5
p.R65W
c.193C>T
1 paper
NM_003124.5
p.L76F
c.228G>C
1 paper
NM_003124.5
p.L76F
c.228G>T
2 papers
NM_003124.5
p.R62H
c.185G>A
1 paper
NM_003124.5
p.Q77H
c.231G>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."