Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.L191L

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.L191L
c.571C>T
Surrounding Variants
1 paper
NM_022051.3
p.L191V
c.571C>G
2 papers
NM_022051.3
p.A190delins
c.568_569delinsTT
1 paper
NM_022051.3
p.K192*
c.574A>T
1 paper
NM_022051.3
p.L188L
c.562C>T
4 papers
NM_022051.3
p.L188V
c.562C>G
1 paper
NM_022051.3
p.L188M
c.562C>A
2 papers
NM_022051.3
p.L195H
c.584T>A
1 paper
NM_022051.3
p.K186N
c.558G>T
1 paper
NM_022051.3
p.K186N
c.558G>C
3 papers
NM_022051.3
p.E196Q
c.586G>C
1 paper
NM_022051.3
p.Y197_I198delFs
c.590_593del4
2 papers
NM_022051.3
p.P200S
c.598C>T
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