Varaico: Literature-Extracted Genetic Variants

Gene:EGLN2
Variant:p.G254R

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.G254R
c.760G>C
Surrounding Variants
1 paper
NM_080732.4
p.M257T
c.770T>C
1 paper
NM_080732.4
p.A258G
c.773C>G
1 paper
NM_080732.4
p.G245S
c.733G>A
1 paper
NM_080732.4
p.W242C
c.726G>C
1 paper
NM_080732.4
p.W242C
c.726G>T
1 paper
NM_080732.4
p.A241_A255del15
c.721_764del45
1 paper
NM_080732.4
p.Q239*
c.715C>T
1 paper
NM_080732.4
p.L271Q
c.812T>A
1 paper
NM_080732.4
p.R233H
c.698G>A
2 papers
NM_080732.4
p.R233C
c.697C>T
1 paper
NM_080732.4
p.P232_G237ins2
c.694_711dup18
1 paper
NM_080732.4
p.A229V
c.686C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."