Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.Q223*

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.Q223*
c.667C>T
Surrounding Variants
1 paper
NM_003124.5
p.G221delFs
c.661delG
1 paper
NM_003124.5
p.K220_G221del2
c.658_662del6
12 papers
NM_003124.5
p.R219*
c.655C>T
1 paper
NM_003124.5
p.A227P
c.679G>C
1 paper
NM_003124.5
p.G229insFs
c.686_687insA
3 papers
NM_003124.5
p.K230*
c.688A>T
1 paper
NM_003124.5
p.K230M
c.689A>T
1 paper
NM_003124.5
p.L231fs
c.691_692fs
1 paper
NM_003124.5
p.D215insFs
c.643_644insA
1 paper
NM_003124.5
p.V214V
c.642G>C
1 paper
NM_003124.5
p.V214A
c.641T>C
1 paper
NM_003124.5
p.S213T
c.637T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."