Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.F366L

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.F366L
c.1096T>C
Surrounding Variants
4 papers
NM_022051.3
p.F366L
c.1098C>G
4 papers
NM_022051.3
p.F366L
c.1098C>A
3 papers
NM_022051.3
p.L363R
c.1088T>G
3 papers
NM_022051.3
p.D369A
c.1106A>C
3 papers
NM_022051.3
p.R370G
c.1108C>G
3 papers
NM_022051.3
p.R370H
c.1109G>A
5 papers
NM_022051.3
p.R371C
c.1111C>T
23 papers
NM_022051.3
p.R371H
c.1112G>A
3 papers
NM_022051.3
p.F360S
c.1079T>C
1 paper
NM_022051.3
p.P373S
c.1117C>T
2 papers
NM_022051.3
p.P358S
c.1072C>T
1 paper
NM_022051.3
p.H374Y
c.1120C>T
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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."