Varaico: Literature-Extracted Genetic Variants

Gene:HYKK
Variant:p.I275F

HYKK

42 papers

Pfam Domains

APHaa 36–297UCSCPhosphotransferase enzyme family

Gene Aliases

HGNC Name

hydroxylysine kinase

HGNC Previous Symbol

AGPHD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001013619.4
p.I275F
c.823A>T
Surrounding Variants
1 paper
NM_001013619.4
p.G255V
c.764G>T
1 paper
NM_001013619.4
p.S241F
c.722C>T
1 paper
NM_001013619.4
p.A240A
c.720C>T
3 papers
NM_001013619.4
p.R312L
c.935G>T
1 paper
NM_001013619.4
p.M335L
c.1003A>C
1 paper
NM_001013619.4
p.M335L
c.1003A>T
2 papers
NM_001013619.4
p.K343E
c.1027A>G
1 paper
NM_001013619.4
p.T363S
c.1087A>T
1 paper
NM_001013619.4
p.T363S
c.1088C>G
1 paper
NM_001013619.4
p.C221Splc
c.662-3988G>T
2 papers
NM_001013619.4
p.H202R
c.605A>G
1 paper
NM_001013619.4
p.R197*
c.589C>T
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