Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.R184H

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
32 papers
NM_000161.3
p.R184H
c.551G>A
Surrounding Variants
16 papers
NM_000161.3
p.R184C
c.550C>T
1 paper
NM_000161.3
p.R184R
c.552C>T
2 papers
NM_000161.3
p.R184R
c.552C>A
1 paper
NM_000161.3
p.L185F
c.553C>T
4 papers
NM_000161.3
p.L185R
c.554T>G
1 paper
NM_000161.3
p.L185P
c.554T>C
2 papers
NM_000161.3
p.E183A
c.548A>C
6 papers
NM_000161.3
p.E183K
c.547G>A
8 papers
NM_000161.3
p.T186I
c.557C>T
2 papers
NM_000161.3
p.T186R
c.557C>G
20 papers
NM_000161.3
p.T186K
c.557C>A
13 papers
NM_000161.3
p.Q182*
c.544C>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."