Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.K291I

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
10 papers
NM_022051.3
p.K291I
c.872A>T
Surrounding Variants
1 paper
NM_022051.3
p.K291R
c.872A>G
1 paper
NM_022051.3
p.I292V
c.874A>G
4 papers
NM_022051.3
p.S289R
c.867C>G
4 papers
NM_022051.3
p.S289R
c.867C>A
1 paper
NM_022051.3
p.N293S
c.878A>G
1 paper
NM_022051.3
p.N293K
c.879T>G
1 paper
NM_022051.3
p.N293K
c.879T>A
1 paper
NM_022051.3
p.K291_N293del0
c.872_877del6
1 paper
NM_022051.3
p.S289G
c.865A>G
4 papers
NM_022051.3
p.S289R
c.865A>C
1 paper
NM_022051.3
p.G294S
c.880G>A
1 paper
NM_022051.3
p.G288G
c.864C>G
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