Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.L279fs

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
7 papers
NM_022051.3
p.L279fs
c.835_836fs
Surrounding Variants
4 papers
NM_022051.3
p.L279P
c.836T>C
2 papers
NM_022051.3
p.D278N
c.832G>A
2 papers
NM_022051.3
p.I280V
c.838A>G
1 paper
NM_022051.3
p.R281C
c.841C>T
7 papers
NM_022051.3
p.I280_R281insFs
c.840_841insA
4 papers
NM_022051.3
p.R281fs
c.841_842fs
2 papers
NM_022051.3
p.R281L
c.842G>T
3 papers
NM_022051.3
p.M276V
c.826A>G
1 paper
NM_022051.3
p.L279_H282delFs
c.835_844del10
1 paper
NM_022051.3
p.S275N
c.824G>A
1 paper
NM_022051.3
p.C283S
c.847T>A
1 paper
NM_022051.3
p.C283S
c.848G>C
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