Varaico: Literature-Extracted Genetic Variants

Gene:EGLN2
Variant:p.R367Splc

EGLN2

120 papers

RefSeq Summary

The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylat...

Pfam Domains

2OG-FeII_Oxy_3aa 282–375UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

egl-9 family hypoxia inducible factor 2

HGNC Alias Symbols

PHD1; HIFPH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080732.4
p.R367Splc
c.1100+1G>A
Surrounding Variants
1 paper
NM_080732.4
p.A365G
c.1094C>G
1 paper
NM_080732.4
p.R355W
c.1063C>T
1 paper
NM_080732.4
p.W351*
c.1052G>A
1 paper
NM_080732.4
p.L347L
c.1039T>C
1 paper
NM_080732.4
p.D345A
c.1034A>C
1 paper
NM_080732.4
p.V336M
c.1006G>A
1 paper
NM_080732.4
p.P335Fs
c.1003delinsGAFs
1 paper
NM_080732.4
p.R334Q
c.1001G>A
1 paper
NM_080732.4
p.F330L
c.990C>G
1 paper
NM_080732.4
p.Q328*
c.982C>T
1 paper
NM_080732.4
p.A369A
c.1107C>T
1 paper
NM_080732.4
p.W373C
c.1119G>C
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