Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.E243fs

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.E243fs
c.727_728fs
Surrounding Variants
1 paper
NM_000161.3
p.E242D
c.726A>T
2 papers
NM_000161.3
p.E242E
c.726A>G
1 paper
NM_000161.3
p.E243A
c.728A>C
1 paper
NM_000161.3
p.E242_E243insFs
c.726_727ins5
1 paper
NM_000161.3
p.R235_T240del6
c.703_719del18
2 papers
NM_000161.3
p.E243_F244insFs
c.729_730insTT
1 paper
NM_000161.3
p.E243fs
c.727_728fs
1 paper
NM_000161.3
p.E243insFs
c.728dupA
1 paper
NM_000161.3
p.E243delFs
c.729delC
2 papers
NM_000161.3
p.E242*
c.724G>T
8 papers
NM_000161.3
p.R241Q
c.722G>A
1 paper
NM_000161.3
p.F244fs
c.730_731fs
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