Varaico: Literature-Extracted Genetic Variants

Gene:EGLN3
Variant:p.Y112H

EGLN3

82 papers

Pfam Domains

2OG-FeII_Oxy_3aa 26–119UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

egl-9 family hypoxia inducible factor 3

HGNC Alias Symbols

PHD3; HIFPH3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022073.4
p.Y112H
c.334T>C
Surrounding Variants
1 paper
NM_022073.4
p.C105C
c.315C>T
1 paper
NM_022073.4
p.C88R
c.262T>C
1 paper
NM_022073.4
p.I81_E85del0
c.241_255del15
1 paper
NM_022073.4
p.R71Q
c.212G>A
1 paper
NM_022073.4
p.R71*
c.211C>T
1 paper
NM_022073.4
p.R71G
c.211C>G
1 paper
NM_022073.4
p.L61P
c.182T>C
1 paper
NM_022073.4
p.D58A
c.173A>C
1 paper
NM_022073.4
p.G54R
c.160G>C
1 paper
NM_022073.4
p.G54R
c.160G>A
1 paper
NM_022073.4
p.T53N
c.158C>A
1 paper
NM_022073.4
p.K48R
c.143A>G
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