Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.D212Y

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.D212Y
c.634G>T
Surrounding Variants
2 papers
NM_022051.3
p.D212V
c.635A>T
1 paper
NM_022051.3
p.D212A
c.635A>C
2 papers
NM_022051.3
p.V210del1
c.628_629delCAC
1 paper
NM_022051.3
p.C208S
c.623G>C
1 paper
NM_022051.3
p.C208R
c.622T>C
1 paper
NM_022051.3
p.C208S
c.622T>A
1 paper
NM_022051.3
p.K216R
c.647A>G
1 paper
NM_022051.3
p.I207V
c.619A>G
4 papers
NM_022051.3
p.G206C
c.616G>T
1 paper
NM_022051.3
p.T218S
c.652A>T
1 paper
NM_022051.3
p.T218S
c.653C>G
6 papers
NM_022051.3
p.K204E
c.610A>G
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