Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.A74V

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
13 papers
NM_000161.3
p.A74V
c.221C>T
Surrounding Variants
1 paper
NM_000161.3
p.A74G
c.221C>G
3 papers
NM_000161.3
p.A74D
c.221C>A
1 paper
NM_000161.3
p.A74P
c.220G>C
1 paper
NM_000161.3
p.A74fs
c.220_221fs
1 paper
NM_000161.3
p.Y75fs
c.223_224fs
2 papers
NM_000161.3
p.A73V
c.218C>T
5 papers
NM_000161.3
p.A73D
c.218C>A
1 paper
NM_000161.3
p.A73delFs
c.217delC
5 papers
NM_000161.3
p.Y75C
c.224A>G
5 papers
NM_000161.3
p.Y75S
c.224A>C
1 paper
NM_000161.3
p.Y75insFs
c.223dupT
1 paper
NM_000161.3
p.A74_Y75insFs
c.220_223dup4
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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."