Varaico: Literature-Extracted Genetic Variants

Gene:EGLN2
Variant:p.L44R

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.L44R
c.131T>G
Surrounding Variants
1 paper
NM_080732.4
p.L44L
c.132G>A
1 paper
NM_080732.4
p.P41_C42del1
c.122_124delCCT
1 paper
NM_080732.4
p.P54A
c.160C>G
5 papers
NM_080732.4
p.S58L
c.173C>T
3 papers
NM_080732.4
p.S61R
c.181A>C
1 paper
NM_080732.4
p.P27L
c.80C>T
3 papers
NM_080732.4
p.S61R
c.183T>A
3 papers
NM_080732.4
p.S61R
c.183T>G
1 paper
NM_080732.4
p.E26V
c.77A>T
1 paper
NM_080732.4
p.S21A
c.61T>G
1 paper
NM_080732.4
p.L17F
c.51A>C
1 paper
NM_080732.4
p.L17F
c.51A>T
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