Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.N306S

EGLN1

309 papers

RefSeq Summary

The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central ...

Pfam Domains

zf-MYNDaa 21–58UCSCMYND finger
2OG-FeII_Oxy_3aa 298–391UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

egl-9 family hypoxia inducible factor 1

HGNC Alias Symbols

SM-20; PHD2; ZMYND6; HIFPH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022051.3
p.N306S
c.917A>G
Surrounding Variants
1 paper
NM_022051.3
p.G305S
c.913G>A
6 papers
NM_022051.3
p.P304L
c.911C>T
1 paper
NM_022051.3
p.T308M
c.923C>T
1 paper
NM_022051.3
p.Y303F
c.908A>T
1 paper
NM_022051.3
p.Y303C
c.908A>G
1 paper
NM_022051.3
p.C302S
c.905G>C
1 paper
NM_022051.3
p.C302S
c.904T>A
3 papers
NM_022051.3
p.R312H
c.935G>A
1 paper
NM_022051.3
p.H313D
c.937C>G
4 papers
NM_022051.3
p.M299T
c.896T>C
1 paper
NM_022051.3
p.D315H
c.943G>C
1 paper
NM_022051.3
p.D315A
c.944A>C
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