Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.K332delFs

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.K332delFs
c.994delT
Surrounding Variants
8 papers
NM_022051.3
p.W334R
c.1000T>C
8 papers
NM_022051.3
p.W334R
c.1000T>A
1 paper
NM_022051.3
p.K332E
c.994A>G
5 papers
NM_022051.3
p.W334*
c.1001G>A
5 papers
NM_022051.3
p.W334*
c.1002G>A
2 papers
NM_022051.3
p.L330insFs
c.990dupT
1 paper
NM_022051.3
p.D335Fs
c.1003delinsGAFs
1 paper
NM_022051.3
p.D335D
c.1005T>C
1 paper
NM_022051.3
p.Y329F
c.986A>T
2 papers
NM_022051.3
p.Y329H
c.985T>C
5 papers
NM_022051.3
p.K337insFs
c.1010dupA
1 paper
NM_022051.3
p.K337_V338Splc
c.1011+3A>G
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