Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.C201S

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.C201S
c.602G>C
Surrounding Variants
1 paper
NM_022051.3
p.C201S
c.601T>A
1 paper
NM_022051.3
p.P200fs
c.598_599fs
4 papers
NM_022051.3
p.M202fs
c.604_605fs
1 paper
NM_022051.3
p.P200L
c.599C>T
8 papers
NM_022051.3
p.P200Q
c.599C>A
3 papers
NM_022051.3
p.M202I
c.606G>T
3 papers
NM_022051.3
p.M202I
c.606G>C
3 papers
NM_022051.3
p.M202I
c.606G>A
2 papers
NM_022051.3
p.P200S
c.598C>T
8 papers
NM_022051.3
p.M202delFs
c.606delC
5 papers
NM_022051.3
p.N203K
c.609C>G
5 papers
NM_022051.3
p.N203K
c.609C>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."