Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.C127S

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
45 papers
NM_022051.3
p.C127S
c.379T>A
Surrounding Variants
48 papers
NM_022051.3
p.C127S
c.380G>C
1 paper
NM_022051.3
p.R128G
c.382C>G
1 paper
NM_022051.3
p.P126A
c.376C>G
1 paper
NM_022051.3
p.S125fs
c.373_374fs
2 papers
NM_022051.3
p.S125A
c.373T>G
1 paper
NM_022051.3
p.A122_A124del3
c.364_371del9
2 papers
NM_022051.3
p.A130P
c.388G>C
1 paper
NM_022051.3
p.G132A
c.395G>C
5 papers
NM_022051.3
p.P120L
c.359C>T
3 papers
NM_022051.3
p.Q134*
c.400C>T
1 paper
NM_022051.3
p.P120A
c.358C>G
1 paper
NM_022051.3
p.Q134P
c.401A>C
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