Varaico: Literature-Extracted Genetic Variants

Gene:EGLN2
Variant:p.D195A

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.D195A
c.584A>C
Surrounding Variants
1 paper
NM_080732.4
p.I191T
c.572T>C
1 paper
NM_080732.4
p.A200E
c.599C>A
1 paper
NM_080732.4
p.A200G
c.599C>G
1 paper
NM_080732.4
p.A200V
c.599C>T
1 paper
NM_080732.4
p.Y188C
c.563A>G
1 paper
NM_080732.4
p.L202delFs
c.606delG
1 paper
NM_080732.4
p.R187W
c.559C>T
1 paper
NM_080732.4
p.G204S
c.610G>A
1 paper
NM_080732.4
p.R205H
c.614G>A
6 papers
NM_080732.4
p.V183M
c.547G>A
1 paper
NM_080732.4
p.D180E
c.540C>A
1 paper
NM_080732.4
p.D180E
c.540C>G
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