Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.W389R

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
2 papers
NM_022051.3
p.W389R
c.1165T>C
Surrounding Variants
2 papers
NM_022051.3
p.W389R
c.1165T>A
4 papers
NM_022051.3
p.W389C
c.1167G>T
4 papers
NM_022051.3
p.W389C
c.1167G>C
1 paper
NM_022051.3
p.W389insFs
c.1166dupG
1 paper
NM_022051.3
p.T387N
c.1160C>A
2 papers
NM_022051.3
p.T387A
c.1159A>G
5 papers
NM_022051.3
p.A385T
c.1153G>A
2 papers
NM_022051.3
p.Y384Y
c.1152C>T
1 paper
NM_022051.3
p.Y384S
c.1151A>C
1 paper
NM_022051.3
p.D394H
c.1180G>C
3 papers
NM_022051.3
p.R383K
c.1148G>A
1 paper
NM_022051.3
p.E395E
c.1185G>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."