Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.K55N

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
4 papers
NM_022051.3
p.K55N
c.165G>C
Surrounding Variants
3 papers
NM_022051.3
p.K55N
c.165G>T
1 paper
NM_022051.3
p.K55E
c.163A>G
3 papers
NM_022051.3
p.W51*
c.153G>A
3 papers
NM_022051.3
p.W51*
c.152G>A
1 paper
NM_022051.3
p.S61R
c.181A>C
2 papers
NM_022051.3
p.D50H
c.148G>C
1 paper
NM_022051.3
p.S61R
c.183C>G
1 paper
NM_022051.3
p.S61R
c.183C>A
1 paper
NM_022051.3
p.E62D
c.186G>T
1 paper
NM_022051.3
p.E62D
c.186G>C
1 paper
NM_022051.3
p.G63ins5
c.187_188ins15
1 paper
NM_022051.3
p.Q47H
c.141G>T
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