Varaico: Literature-Extracted Genetic Variants

Gene:EGLN2
Variant:p.Q397delFs

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
2 papers
NM_080732.4
p.Q397delFs
c.1189delC
Surrounding Variants
1 paper
NM_080732.4
p.Q397*
c.1189C>T
1 paper
NM_080732.4
p.P403Q
c.1208C>A
1 paper
NM_080732.4
p.T405M
c.1214C>T
1 paper
NM_080732.4
p.T407N
c.1220C>A
1 paper
NM_080732.4
p.A383A
c.1149C>T
1 paper
NM_080732.4
p.R380L
c.1139G>T
3 papers
NM_080732.4
p.Y374C
c.1121A>G
1 paper
NM_080732.4
p.W373C
c.1119G>C
1 paper
NM_080732.4
p.W373C
c.1119G>T
1 paper
NM_080732.4
p.A369A
c.1107C>T
1 paper
NM_080732.4
p.R367Splc
c.1100+1G>A
1 paper
NM_080732.4
p.A365G
c.1094C>G
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