Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.M221fs

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
2 papers
NM_000161.3
p.M221fs
c.661_662fs
Surrounding Variants
2 papers
NM_000161.3
p.M221R
c.662T>G
15 papers
NM_000161.3
p.M221T
c.662T>C
1 paper
NM_000161.3
p.K220R
c.659A>G
1 paper
NM_000161.3
p.Q219_M221delFs
c.656_663del8
2 papers
NM_000161.3
p.M221_N222delFs
c.662_665del4
1 paper
NM_000161.3
p.Q219P
c.656A>C
2 papers
NM_000161.3
p.Q219*
c.655C>T
4 papers
NM_000161.3
p.S223R
c.667A>C
1 paper
NM_000161.3
p.V218insFs
c.653dupT
1 paper
NM_000161.3
p.V218fs
c.652_653fs
4 papers
NM_000161.3
p.S223R
c.669C>G
1 paper
NM_000161.3
p.S223fs
c.667_668fs
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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."