Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.I193M

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
3 papers
NM_000161.3
p.I193M
c.579C>G
Surrounding Variants
3 papers
NM_000161.3
p.I193N
c.578T>A
2 papers
NM_000161.3
p.T194T
c.582G>A
1 paper
NM_000161.3
p.A192P
c.574G>C
1 paper
NM_000161.3
p.E195A
c.584A>C
2 papers
NM_000161.3
p.V191V
c.573A>G
6 papers
NM_000161.3
p.A196S
c.586G>T
13 papers
NM_000161.3
p.V191I
c.571G>A
1 paper
NM_000161.3
p.A196D
c.587C>A
1 paper
NM_000161.3
p.A190fs
c.568_569fs
1 paper
NM_000161.3
p.A190delFs
c.568delC
1 paper
NM_000161.3
p.A190fs
c.568_569fs
2 papers
NM_000161.3
p.I189insFs
c.567dupT
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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."