Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1

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
1–12 of 376 variants
48 papers
NM_022051.3
p.C127S
c.380G>C
47 papers
NM_022051.3
p.P317R
c.950C>G
45 papers
NM_022051.3
p.C127S
c.379T>A
42 papers
NM_022051.3
p.D4E
c.12C>G
39 papers
NM_022051.3
p.D4E
c.12C>A
32 papers
NM_022051.3
p.H374R
c.1121A>G
23 papers
NM_022051.3
p.R371H
c.1112G>A
18 papers
NM_022051.3
p.Q157H
c.471G>C
17 papers
NM_022051.3
p.Q157H
c.471G>T
12 papers
NM_022051.3
p.R398*
c.1192C>T
10 papers
NM_022051.3
p.K291I
c.872A>T
8 papers
NM_022051.3
p.Y41C
c.122A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."