Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.Y163*

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.Y163*
c.489C>A
Surrounding Variants
2 papers
NM_022051.3
p.Y163*
c.489C>G
3 papers
NM_022051.3
p.P165S
c.493C>T
3 papers
NM_022051.3
p.P165fs
c.493_494fs
4 papers
NM_022051.3
p.P165insFs
c.494dupC
1 paper
NM_022051.3
p.P165fs
c.493_494fs
4 papers
NM_022051.3
p.P165delFs
c.494delG
2 papers
NM_022051.3
p.S166fs
c.496_497fs
2 papers
NM_022051.3
p.S166R
c.496A>C
2 papers
NM_022051.3
p.S166R
c.498C>G
2 papers
NM_022051.3
p.S166R
c.498C>A
1 paper
NM_022051.3
p.N167D
c.499A>G
1 paper
NM_022051.3
p.T168A
c.502A>G
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."