Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.D4E

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
42 papers
NM_022051.3
p.D4E
c.12C>G
Surrounding Variants
39 papers
NM_022051.3
p.D4E
c.12C>A
1 paper
NM_022051.3
p.D4A
c.11A>C
1 paper
NM_022051.3
p.D4N
c.10G>A
1 paper
NM_022051.3
p.N3S
c.8A>G
1 paper
NM_022051.3
p.A2V
c.5C>T
1 paper
NM_022051.3
p.M1I
c.3G>T
1 paper
NM_022051.3
p.M1_A2insFs
c.3_4insA
1 paper
NM_022051.3
p.M1I
c.3G>C
1 paper
NM_022051.3
p.M1I
c.3G>A
1 paper
NM_022051.3
p.M1insFs
c.1dupA
2 papers
NM_022051.3
p.M1R
c.2T>G
1 paper
NM_022051.3
p.P8S
c.22C>T
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