Varaico: Literature-Extracted Genetic Variants

Gene:GCHFR
Variant:p.E84A

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
Selected Variant
1 paper
NM_005258.3
p.E84A
c.251A>C
Surrounding Variants
1 paper
NM_005258.3
p.H82Y
c.244C>T
1 paper
NM_005258.3
p.L81Q
c.242T>A
1 paper
NM_005258.3
p.K59*
c.175A>T
1 paper
NM_005258.3
p.K59_G64delFs
c.176_191del16
1 paper
NM_005258.3
p.D58E
c.174C>G
1 paper
NM_005258.3
p.R54C
c.160C>T
1 paper
NM_005258.3
p.P53R
c.158C>G
1 paper
NM_005258.3
p.P53L
c.158C>T
1 paper
NM_005258.3
p.D50Y
c.148G>T
1 paper
NM_005258.3
p.Y48*
c.144C>A
1 paper
NM_005258.3
p.R38K
c.113G>A
1 paper
NM_005258.3
p.R37S
c.111A>T
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