Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.T94fs

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.T94fs
c.280_281fs
Surrounding Variants
7 papers
NM_000161.3
p.P95S
c.283C>T
6 papers
NM_000161.3
p.T94M
c.281C>T
5 papers
NM_000161.3
p.T94K
c.281C>A
8 papers
NM_000161.3
p.P95L
c.284C>T
4 papers
NM_000161.3
p.P95R
c.284C>G
1 paper
NM_000161.3
p.K93insFs
c.278dupA
1 paper
NM_000161.3
p.Q89_P95del0
c.267_284del18
11 papers
NM_000161.3
p.W96*
c.287G>A
4 papers
NM_000161.3
p.L92delFs
c.276delG
11 papers
NM_000161.3
p.W96*
c.288G>A
1 paper
NM_000161.3
p.L92P
c.275T>C
1 paper
NM_000161.3
p.W96_R97delFs
c.286_289del4
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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."