Varaico: Literature-Extracted Genetic Variants

Gene:PTS
Variant:p.D89delFs

PTS

234 papers

RefSeq Summary

The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopt...

Pfam Domains

PTPSaa 13–145UCSC6-pyruvoyl tetrahydropterin synthase

Gene Aliases

HGNC Name

6-pyruvoyltetrahydropterin synthase

HGNC Alias Symbol

PTPS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000317.3
p.D89delFs
c.266_267delAT
Surrounding Variants
1 paper
NM_000317.3
p.D89N
c.265G>A
1 paper
NM_000317.3
p.L88F
c.262C>T
23 papers
NM_000317.3
p.P87L
c.260C>T
2 papers
NM_000317.3
p.K91E
c.271A>G
62 papers
NM_000317.3
p.P87S
c.259C>T
16 papers
NM_000317.3
p.K91R
c.272A>G
1 paper
NM_000317.3
p.N92H
c.274A>C
2 papers
NM_000317.3
p.N92K
c.276T>A
2 papers
NM_000317.3
p.N92K
c.276T>G
4 papers
NM_000317.3
p.L93M
c.277C>A
1 paper
NM_000317.3
p.I84F
c.250A>T
1 paper
NM_000317.3
p.D94G
c.281A>G
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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."