Varaico: Literature-Extracted Genetic Variants

Gene:GCHFR

GCHFR

109 papers

RefSeq Summary

GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated ...

Pfam Domains

GFRPaa 2–84UCSCGTP cyclohydrolase I feedback regulatory protein (GFRP)

Gene Aliases

HGNC Name

GTP cyclohydrolase I feedback regulator

HGNC Alias Symbols

GFRP; HsT16933

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
1 paper
NM_005258.3
p.M1V
c.1A>G
1 paper
NM_005258.3
p.M1insFs
c.3dupG
1 paper
NM_005258.3
p.L4L
c.12G>A
1 paper
NM_005258.3
p.L4L
c.12G>C
1 paper
NM_005258.3
p.I10T
c.29T>C
1 paper
NM_005258.3
p.R11delFs
c.31delC
1 paper
NM_005258.3
p.E22_G33del12
c.64_98del36
1 paper
NM_005258.3
p.E22K
c.64G>A
1 paper
NM_005258.3
p.E22G
c.65A>G
1 paper
NM_005258.3
p.S24L
c.71C>T
1 paper
NM_005258.3
p.S24delFs
c.72delG
1 paper
NM_005258.3
p.A34A
c.102T>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."