Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.E148del1

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.E148del1
c.442_444delCTC
Surrounding Variants
1 paper
NM_022051.3
p.E148G
c.443A>G
1 paper
NM_022051.3
p.E147Q
c.439G>C
1 paper
NM_022051.3
p.S154P
c.460T>C
6 papers
NM_022051.3
p.S154*
c.461C>A
1 paper
NM_022051.3
p.L155L
c.463C>T
3 papers
NM_022051.3
p.Q157R
c.470A>G
17 papers
NM_022051.3
p.Q157H
c.471G>T
18 papers
NM_022051.3
p.Q157H
c.471G>C
1 paper
NM_022051.3
p.K159E
c.475A>G
3 papers
NM_022051.3
p.V138A
c.413T>C
1 paper
NM_022051.3
p.V138M
c.412G>A
1 paper
NM_022051.3
p.G135G
c.405C>T
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