Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.Q188*

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
4 papers
NM_000161.3
p.Q188*
c.562C>T
Surrounding Variants
1 paper
NM_000161.3
p.L185_K187Fs
c.554_559delinsTGTGFs
1 paper
NM_000161.3
p.T186fs
c.556_557fs
8 papers
NM_000161.3
p.T186I
c.557C>T
2 papers
NM_000161.3
p.T186R
c.557C>G
20 papers
NM_000161.3
p.T186K
c.557C>A
1 paper
NM_000161.3
p.A190fs
c.568_569fs
2 papers
NM_000161.3
p.I189insFs
c.567dupT
1 paper
NM_000161.3
p.A190delFs
c.568delC
1 paper
NM_000161.3
p.A190fs
c.568_569fs
4 papers
NM_000161.3
p.L185R
c.554T>G
1 paper
NM_000161.3
p.L185P
c.554T>C
13 papers
NM_000161.3
p.V191I
c.571G>A
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