Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.M215T

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.M215T
c.644T>C
Surrounding Variants
28 papers
NM_000161.3
p.R216*
c.646C>T
1 paper
NM_000161.3
p.R216Q
c.647G>A
1 paper
NM_000161.3
p.V214L
c.640G>T
1 paper
NM_000161.3
p.V214L
c.640G>C
5 papers
NM_000161.3
p.M213T
c.638T>C
4 papers
NM_000161.3
p.G217V
c.650G>T
4 papers
NM_000161.3
p.M213V
c.637A>G
1 paper
NM_000161.3
p.C212delFs
c.635_636delAC
1 paper
NM_000161.3
p.V218L
c.652G>T
1 paper
NM_000161.3
p.C212Y
c.635G>A
1 paper
NM_000161.3
p.C212fs
c.634_635fs
1 paper
NM_000161.3
p.V218insFs
c.653dupT
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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."