Varaico: Literature-Extracted Genetic Variants

Gene:HYKK
Variant:p.S3R

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.S3R
c.7A>C
Surrounding Variants
1 paper
NM_001013619.4
p.S3R
c.9T>A
1 paper
NM_001013619.4
p.S3R
c.9T>G
1 paper
NM_001013619.4
p.P15H
c.44C>A
1 paper
NM_001013619.4
p.Q21insFs
c.63dupA
1 paper
NM_001013619.4
p.A24A
c.72G>A
1 paper
NM_001013619.4
p.R38L
c.113G>T
2 papers
NM_001013619.4
p.N82delFs
c.244delA
1 paper
NM_001013619.4
p.N82fs
c.244_245fs
1 paper
NM_001013619.4
p.N82fs
c.244_245fs
1 paper
NM_001013619.4
p.P94A
c.280C>G
1 paper
NM_001013619.4
p.V110M
c.328G>A
1 paper
NM_001013619.4
p.D113Splc
c.337+256T>C
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