Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.V205G

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
9 papers
NM_000161.3
p.V205G
c.614T>G
Surrounding Variants
7 papers
NM_000161.3
p.V205A
c.614T>C
6 papers
NM_000161.3
p.V205E
c.614T>A
6 papers
NM_000161.3
p.V204G
c.611T>G
7 papers
NM_000161.3
p.V206A
c.617T>C
1 paper
NM_000161.3
p.V206fs
c.616_617fs
1 paper
NM_000161.3
p.V204_V206del0
c.612_617del6
23 papers
NM_000161.3
p.V204I
c.610G>A
1 paper
NM_000161.3
p.G203G
c.609G>A
1 paper
NM_000161.3
p.E207fs
c.619_620fs
8 papers
NM_000161.3
p.G203E
c.608G>A
35 papers
NM_000161.3
p.G203R
c.607G>C
37 papers
NM_000161.3
p.G203R
c.607G>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."