Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.C323S

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.C323S
c.967T>A
Surrounding Variants
1 paper
NM_022051.3
p.C323S
c.968G>C
1 paper
NM_022051.3
p.C326S
c.976T>A
1 paper
NM_022051.3
p.C326S
c.977G>C
3 papers
NM_022051.3
p.C326Y
c.977G>A
47 papers
NM_022051.3
p.P317R
c.950C>G
4 papers
NM_022051.3
p.P317delins
c.949_950delinsAG
2 papers
NM_022051.3
p.Y329H
c.985T>C
2 papers
NM_022051.3
p.P317S
c.949C>T
1 paper
NM_022051.3
p.Y329F
c.986A>T
1 paper
NM_022051.3
p.N316Y
c.946A>T
4 papers
NM_022051.3
p.D315E
c.945T>G
4 papers
NM_022051.3
p.D315E
c.945T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."