Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.K251*

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
19 papers
NM_003124.5
p.K251*
c.751A>T
Surrounding Variants
1 paper
NM_003124.5
p.D257H
c.769G>C
1 paper
NM_003124.5
p.S243N
c.728G>A
2 papers
NM_003124.5
p.L241L
c.721C>T
1 paper
NM_003124.5
p.S237*
c.710C>A
1 paper
NM_003124.5
p.V236A
c.707T>C
1 paper
NM_003124.5
p.D233G
c.698A>G
1 paper
NM_003124.5
p.L231fs
c.691_692fs
1 paper
NM_003124.5
p.K230M
c.689A>T
3 papers
NM_003124.5
p.K230*
c.688A>T
1 paper
NM_003124.5
p.G229insFs
c.686_687insA
1 paper
NM_003124.5
p.A227P
c.679G>C
1 paper
NM_003124.5
p.Q223*
c.667C>T
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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."