Varaico: Literature-Extracted Genetic Variants

Gene:EGLN2
Variant:p.C104R

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.C104R
c.310T>C
Surrounding Variants
1 paper
NM_080732.4
p.A108V
c.323C>T
1 paper
NM_080732.4
p.Q110_G111ins9
c.330_331ins27
1 paper
NM_080732.4
p.A96V
c.287C>T
1 paper
NM_080732.4
p.P90L
c.269C>T
1 paper
NM_080732.4
p.P90S
c.268C>T
1 paper
NM_080732.4
p.A122_D124del3
c.364_371del9
1 paper
NM_080732.4
p.G82E
c.245G>A
1 paper
NM_080732.4
p.G81_G85del0
c.241_255del15
1 paper
NM_080732.4
p.L76F
c.226C>T
1 paper
NM_080732.4
p.K133E
c.397A>G
1 paper
NM_080732.4
p.R134W
c.400C>T
1 paper
NM_080732.4
p.R134R
c.402G>A
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