Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.H210R

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
4 papers
NM_000161.3
p.H210R
c.629A>G
Surrounding Variants
2 papers
NM_000161.3
p.H210L
c.629A>T
5 papers
NM_000161.3
p.H210delFs
c.628delG
6 papers
NM_000161.3
p.H210Q
c.630C>G
5 papers
NM_000161.3
p.H210Q
c.630C>A
1 paper
NM_000161.3
p.H210fs
c.628_629fs
5 papers
NM_000161.3
p.M211fs
c.631_632fs
1 paper
NM_000161.3
p.M211L
c.631A>T
14 papers
NM_000161.3
p.M211V
c.631A>G
1 paper
NM_000161.3
p.M211T
c.632T>C
1 paper
NM_000161.3
p.M211K
c.632T>A
3 papers
NM_000161.3
p.T209I
c.626C>T
20 papers
NM_000161.3
p.M211I
c.633G>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."