Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.Y41C

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
8 papers
NM_022051.3
p.Y41C
c.122A>G
Surrounding Variants
1 paper
NM_022051.3
p.Y41S
c.122A>C
8 papers
NM_022051.3
p.C42R
c.124T>C
5 papers
NM_022051.3
p.C42S
c.124T>A
1 paper
NM_022051.3
p.F40F
c.120C>T
5 papers
NM_022051.3
p.C42S
c.125G>C
2 papers
NM_022051.3
p.Y41_C42del1
c.122_124delAGT
1 paper
NM_022051.3
p.F40L
c.118T>C
1 paper
NM_022051.3
p.K44*
c.130A>T
1 paper
NM_022051.3
p.C43insFs
c.129dupC
1 paper
NM_022051.3
p.S38N
c.113G>A
1 paper
NM_022051.3
p.K44K
c.132G>A
3 papers
NM_022051.3
p.S38G
c.112A>G
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