Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.R100W

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
3 papers
NM_022051.3
p.R100W
c.298C>T
Surrounding Variants
1 paper
NM_022051.3
p.A97V
c.290C>T
1 paper
NM_022051.3
p.N102K
c.306C>G
1 paper
NM_022051.3
p.A103T
c.307G>A
3 papers
NM_022051.3
p.A96V
c.287C>T
1 paper
NM_022051.3
p.S104P
c.310T>C
5 papers
NM_022051.3
p.S104F
c.311C>T
1 paper
NM_022051.3
p.A107S
c.319G>T
1 paper
NM_022051.3
p.P93A
c.277C>G
1 paper
NM_022051.3
p.E92D
c.276G>T
1 paper
NM_022051.3
p.E92D
c.276G>C
1 paper
NM_022051.3
p.A108V
c.323C>T
2 papers
NM_022051.3
p.R91W
c.271C>T
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