Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.M27L

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.M27L
c.79A>C
Surrounding Variants
1 paper
NM_022051.3
p.M27L
c.79A>T
1 paper
NM_022051.3
p.E22_L23del0
c.64_69del6
1 paper
NM_022051.3
p.L30L
c.88C>T
1 paper
NM_022051.3
p.L31L
c.91C>T
1 paper
NM_022051.3
p.E22G
c.65A>G
2 papers
NM_022051.3
p.R32H
c.95G>A
1 paper
NM_022051.3
p.C21S
c.62G>C
1 paper
NM_022051.3
p.C33G
c.97T>G
1 paper
NM_022051.3
p.C33S
c.97T>A
1 paper
NM_022051.3
p.C21S
c.61T>A
1 paper
NM_022051.3
p.C33S
c.98G>C
1 paper
NM_022051.3
p.R35G
c.103C>G
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