Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.R398*

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
12 papers
NM_022051.3
p.R398*
c.1192C>T
Surrounding Variants
1 paper
NM_022051.3
p.R398R
c.1192C>A
1 paper
NM_022051.3
p.A399S
c.1195G>T
3 papers
NM_022051.3
p.R396T
c.1187G>C
1 paper
NM_022051.3
p.T387_R396delFs
c.1161_1186del26
1 paper
NM_022051.3
p.R396*
c.1186A>T
1 paper
NM_022051.3
p.E395E
c.1185G>A
1 paper
NM_022051.3
p.D394H
c.1180G>C
1 paper
NM_022051.3
p.Y403C
c.1208A>G
1 paper
NM_022051.3
p.Y403delFs
c.1209delA
1 paper
NM_022051.3
p.W389insFs
c.1166dupG
1 paper
NM_022051.3
p.G406S
c.1216G>A
4 papers
NM_022051.3
p.W389C
c.1167G>T
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