Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.G233E

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
1 paper
NM_022051.3
p.G233E
c.698G>A
Surrounding Variants
2 papers
NM_022051.3
p.G233A
c.698G>C
2 papers
NM_022051.3
p.T232_D237ins2
c.694_711dup18
2 papers
NM_022051.3
p.G238R
c.712G>C
2 papers
NM_022051.3
p.G238R
c.712G>A
8 papers
NM_022051.3
p.A228S
c.682G>T
5 papers
NM_022051.3
p.Q239*
c.715C>T
1 paper
NM_022051.3
p.R227C
c.679C>T
4 papers
NM_022051.3
p.V226insFs
c.678dupG
4 papers
NM_022051.3
p.R227fs
c.679_680fs
2 papers
NM_022051.3
p.E225D
c.675G>T
2 papers
NM_022051.3
p.E225D
c.675G>C
2 papers
NM_022051.3
p.S242G
c.724A>G
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