Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.G238R

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.G238R
c.712G>A
Surrounding Variants
2 papers
NM_022051.3
p.T232_D237ins2
c.694_711dup18
2 papers
NM_022051.3
p.G238R
c.712G>C
5 papers
NM_022051.3
p.Q239*
c.715C>T
2 papers
NM_022051.3
p.S242G
c.724A>G
2 papers
NM_022051.3
p.G233A
c.698G>C
1 paper
NM_022051.3
p.G233E
c.698G>A
1 paper
NM_022051.3
p.K244fs
c.730_731fs
1 paper
NM_022051.3
p.K244R
c.731A>G
2 papers
NM_022051.3
p.Q243_K244insFs
c.729_730dupGA
1 paper
NM_022051.3
p.S245R
c.733A>C
1 paper
NM_022051.3
p.S245R
c.735T>G
1 paper
NM_022051.3
p.S245R
c.735T>A
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