Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.C212delFs

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.C212delFs
c.635_636delAC
Surrounding Variants
4 papers
NM_000161.3
p.M213V
c.637A>G
5 papers
NM_000161.3
p.M213T
c.638T>C
1 paper
NM_000161.3
p.C212Y
c.635G>A
1 paper
NM_000161.3
p.C212fs
c.634_635fs
1 paper
NM_000161.3
p.V214L
c.640G>T
1 paper
NM_000161.3
p.V214L
c.640G>C
20 papers
NM_000161.3
p.M211I
c.633G>T
3 papers
NM_000161.3
p.M211fs
c.631_632fs
20 papers
NM_000161.3
p.M211I
c.633G>C
23 papers
NM_000161.3
p.M211I
c.633G>A
9 papers
NM_000161.3
p.M211delFs
c.631_632delAT
1 paper
NM_000161.3
p.M211T
c.632T>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."