Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.L91V

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
6 papers
NM_000161.3
p.L91V
c.271C>G
Surrounding Variants
1 paper
NM_000161.3
p.L91_L92ins5
c.271_275ins15
5 papers
NM_000161.3
p.L91R
c.272T>G
10 papers
NM_000161.3
p.G90V
c.269G>T
2 papers
NM_000161.3
p.G90R
c.268G>C
2 papers
NM_000161.3
p.G90R
c.268G>A
1 paper
NM_000161.3
p.Q89del1
c.265_266delTTG
2 papers
NM_000161.3
p.L92I
c.274C>A
1 paper
NM_000161.3
p.L92P
c.275T>C
1 paper
NM_000161.3
p.Q89Q
c.267A>G
1 paper
NM_000161.3
p.Q89P
c.266A>C
13 papers
NM_000161.3
p.Q89*
c.265C>T
4 papers
NM_000161.3
p.L92delFs
c.276delG
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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."