Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.L271fs

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
2 papers
NM_022051.3
p.L271fs
c.811_812fs
Surrounding Variants
2 papers
NM_022051.3
p.G270_L271insFs
c.808_811dup4
1 paper
NM_022051.3
p.L271Q
c.812T>A
1 paper
NM_022051.3
p.G270E
c.809G>A
6 papers
NM_022051.3
p.L272P
c.815T>C
4 papers
NM_022051.3
p.I269T
c.806T>C
2 papers
NM_022051.3
p.T268I
c.803C>T
2 papers
NM_022051.3
p.E267K
c.799G>A
1 paper
NM_022051.3
p.S275N
c.824G>A
3 papers
NM_022051.3
p.M276V
c.826A>G
2 papers
NM_022051.3
p.G265delins
c.794_795delinsTT
2 papers
NM_022051.3
p.G265V
c.794G>T
2 papers
NM_022051.3
p.D278N
c.832G>A
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