Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.S139A

GCH1

472 papers

RefSeq Summary

This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into ...

Pfam Domains

GTP_cyclohydroIaa 71–249UCSCGTP cyclohydrolase I

Gene Aliases

HGNC Name

GTP cyclohydrolase 1

HGNC Previous Symbols

DYT5; DYT14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000161.3
p.S139A
c.415T>G
Surrounding Variants
1 paper
NM_000161.3
p.F138fs
c.412_413fs
1 paper
NM_000161.3
p.F138Y
c.413T>A
2 papers
NM_000161.3
p.I135_M137ins1
c.403_411dup9
1 paper
NM_000161.3
p.F138fs
c.412_413fs
1 paper
NM_000161.3
p.M137delFs
c.411delC
1 paper
NM_000161.3
p.M137I
c.411G>T
4 papers
NM_000161.3
p.M137R
c.410T>G
9 papers
NM_000161.3
p.C141R
c.421T>C
4 papers
NM_000161.3
p.M137V
c.409A>G
1 paper
NM_000161.3
p.D136D
c.408C>T
10 papers
NM_000161.3
p.C141W
c.423T>G
3 papers
NM_000161.3
p.D136V
c.407A>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."