Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.P79S

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
2 papers
NM_022051.3
p.P79S
c.235C>T
Surrounding Variants
1 paper
NM_022051.3
p.P79delFs
c.235delG
1 paper
NM_022051.3
p.A78T
c.232G>A
1 paper
NM_022051.3
p.P80fs
c.238_239fs
1 paper
NM_022051.3
p.P80A
c.238C>G
2 papers
NM_022051.3
p.P77L
c.230C>T
1 paper
NM_022051.3
p.P77A
c.229C>G
1 paper
NM_022051.3
p.A81V
c.242C>T
1 paper
NM_022051.3
p.A81G
c.242C>G
1 paper
NM_022051.3
p.A82V
c.245C>T
1 paper
NM_022051.3
p.S75F
c.224C>T
1 paper
NM_022051.3
p.P84A
c.250C>G
1 paper
NM_022051.3
p.P85A
c.253C>G
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