Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.I113M

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.I113M
c.339C>G
Surrounding Variants
2 papers
NM_000161.3
p.S114L
c.341C>T
15 papers
NM_000161.3
p.S114*
c.341C>G
15 papers
NM_000161.3
p.S114*
c.341C>A
4 papers
NM_000161.3
p.S114S
c.342A>T
5 papers
NM_000161.3
p.D115N
c.343G>A
1 paper
NM_000161.3
p.T112N
c.335C>A
3 papers
NM_000161.3
p.D115Splc
c.343+1G>T
1 paper
NM_000161.3
p.D115Splc
c.343+1G>A
5 papers
NM_000161.3
p.T112A
c.334A>G
1 paper
NM_000161.3
p.E111E
c.333G>A
2 papers
NM_000161.3
p.E111*
c.331G>T
2 papers
NM_000161.3
p.E111K
c.331G>A
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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."