Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.K224E

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.K224E
c.670A>G
Surrounding Variants
15 papers
NM_000161.3
p.K224*
c.670A>T
4 papers
NM_000161.3
p.S223R
c.669C>G
1 paper
NM_000161.3
p.S223fs
c.667_668fs
4 papers
NM_000161.3
p.S223R
c.669C>A
53 papers
NM_000161.3
p.K224R
c.671A>G
4 papers
NM_000161.3
p.S223R
c.667A>C
2 papers
NM_000161.3
p.M221_N222delFs
c.662_665del4
1 paper
NM_000161.3
p.K220_S223del4
c.658_668del12
1 paper
NM_000161.3
p.Q219_M221delFs
c.656_663del8
1 paper
NM_000161.3
p.V226insFs
c.676_677insA
2 papers
NM_000161.3
p.V226fs
c.676_677fs
4 papers
NM_000161.3
p.V226A
c.677T>C
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