Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.G83insFs

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.G83insFs
c.248dupG
Surrounding Variants
6 papers
NM_000161.3
p.E84*
c.250G>T
13 papers
NM_000161.3
p.G83A
c.248G>C
1 paper
NM_000161.3
p.G83D
c.248G>A
1 paper
NM_000161.3
p.E84fs
c.250_251fs
2 papers
NM_000161.3
p.L82del1
c.244_245delCAG
2 papers
NM_000161.3
p.S77_L82del0
c.229_246del18
2 papers
NM_000161.3
p.L82L
c.246G>T
5 papers
NM_000161.3
p.L82P
c.245T>C
1 paper
NM_000161.3
p.L82_G83insA
c.244_248ins3
1 paper
NM_000161.3
p.N85N
c.255C>T
1 paper
NM_000161.3
p.N85K
c.255C>G
3 papers
NM_000161.3
p.P86S
c.256C>T
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