Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.A118V

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.A118V
c.353C>T
Surrounding Variants
1 paper
NM_022051.3
p.D119Y
c.355G>T
1 paper
NM_022051.3
p.P120A
c.358C>G
5 papers
NM_022051.3
p.P120L
c.359C>T
1 paper
NM_022051.3
p.P116S
c.346C>T
1 paper
NM_022051.3
p.P116T
c.346C>A
1 paper
NM_022051.3
p.K113E
c.337A>G
2 papers
NM_022051.3
p.S125A
c.373T>G
1 paper
NM_022051.3
p.A122_A124del3
c.364_371del9
1 paper
NM_022051.3
p.S125fs
c.373_374fs
1 paper
NM_022051.3
p.P126A
c.376C>G
1 paper
NM_022051.3
p.G110_K111ins9
c.330_331ins27
1 paper
NM_022051.3
p.G110R
c.328G>A
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