Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.V116L

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.V116L
c.346G>C
Surrounding Variants
2 papers
NM_000161.3
p.D115Splc
c.344-1G>C
12 papers
NM_000161.3
p.D115N
c.343G>A
7 papers
NM_000161.3
p.L117R
c.350T>G
6 papers
NM_000161.3
p.D115Splc
c.344-2A>G
1 paper
NM_000161.3
p.D115Splc
c.344-3C>G
2 papers
NM_000161.3
p.L117L
c.351A>G
1 paper
NM_000161.3
p.L117fs
c.349_350fs
1 paper
NM_000161.3
p.N118fs
c.352_353fs
2 papers
NM_000161.3
p.D115Splc
c.344-5T>G
2 papers
NM_000161.3
p.D115Splc
c.344-5T>A
1 paper
NM_000161.3
p.N118I
c.353A>T
8 papers
NM_000161.3
p.L117delFs
c.351delT
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