Varaico: Literature-Extracted Genetic Variants

Gene:EGLN2

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
1–12 of 99 variants
6 papers
NM_080732.4
p.V183M
c.547G>A
5 papers
NM_080732.4
p.S58L
c.173C>T
3 papers
NM_080732.4
p.S61R
c.181A>C
3 papers
NM_080732.4
p.S61R
c.183T>A
3 papers
NM_080732.4
p.S61R
c.183T>G
3 papers
NM_080732.4
p.Y374C
c.1121A>G
2 papers
NM_080732.4
p.R233C
c.697C>T
2 papers
NM_080732.4
p.R279H
c.836G>A
2 papers
NM_080732.4
p.Q397delFs
c.1189delC
1 paper
NM_080732.4
p.M1I
c.3G>A
1 paper
NM_080732.4
p.M1I
c.3G>C
1 paper
NM_080732.4
p.M1_D2insFs
c.3_4insA
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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."