Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.V218insFs

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.V218insFs
c.653dupT
Surrounding Variants
1 paper
NM_000161.3
p.V218fs
c.652_653fs
2 papers
NM_000161.3
p.Q219*
c.655C>T
1 paper
NM_000161.3
p.V218L
c.652G>T
1 paper
NM_000161.3
p.Q219P
c.656A>C
4 papers
NM_000161.3
p.G217V
c.650G>T
1 paper
NM_000161.3
p.K220R
c.659A>G
1 paper
NM_000161.3
p.R216Q
c.647G>A
2 papers
NM_000161.3
p.M221fs
c.661_662fs
2 papers
NM_000161.3
p.M221R
c.662T>G
15 papers
NM_000161.3
p.M221T
c.662T>C
28 papers
NM_000161.3
p.R216*
c.646C>T
1 paper
NM_000161.3
p.M215T
c.644T>C
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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."