Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.R344*

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
5 papers
NM_022051.3
p.R344*
c.1030C>T
Surrounding Variants
4 papers
NM_022051.3
p.R344Q
c.1031G>A
1 paper
NM_022051.3
p.I342I
c.1026A>C
3 papers
NM_022051.3
p.I342V
c.1024A>G
1 paper
NM_022051.3
p.E348K
c.1042G>A
3 papers
NM_022051.3
p.S339T
c.1016G>C
2 papers
NM_022051.3
p.G349C
c.1045G>T
2 papers
NM_022051.3
p.G349S
c.1045G>A
1 paper
NM_022051.3
p.V338insFs
c.1012dupG
6 papers
NM_022051.3
p.V338fs
c.1012_1013fs
2 papers
NM_022051.3
p.D355N
c.1063G>A
1 paper
NM_022051.3
p.D355A
c.1064A>C
2 papers
NM_022051.3
p.P358S
c.1072C>T
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