Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.R227fs

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
4 papers
NM_022051.3
p.R227fs
c.679_680fs
Surrounding Variants
1 paper
NM_022051.3
p.R227C
c.679C>T
4 papers
NM_022051.3
p.V226insFs
c.678dupG
8 papers
NM_022051.3
p.A228S
c.682G>T
2 papers
NM_022051.3
p.E225D
c.675G>T
2 papers
NM_022051.3
p.E225D
c.675G>C
1 paper
NM_022051.3
p.I222delFs
c.666delG
2 papers
NM_022051.3
p.I222S
c.665T>G
3 papers
NM_022051.3
p.Q221*
c.661C>T
2 papers
NM_022051.3
p.G233A
c.698G>C
1 paper
NM_022051.3
p.G233E
c.698G>A
1 paper
NM_022051.3
p.T218S
c.653C>G
1 paper
NM_022051.3
p.T218S
c.652A>T
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