Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.H218Y

ENDOU

588 papers

RefSeq Summary

This gene encodes a protein with endoribonuclease activity that binds polyuridine-enriched single-stranded RNA. This gene was initially characterized based on its high expression in placenta but was m...

Pfam Domains

Somatomedin_Baa 22–61UCSCSomatomedin B domain
Somatomedin_Baa 22–61UCSCSomatomedin B domain
Somatomedin_Baa 22–61UCSCSomatomedin B domain
Somatomedin_Baa 88–127UCSCSomatomedin B domain
Somatomedin_Baa 88–127UCSCSomatomedin B domain
XendoUaa 140–406UCSCEndoribonuclease XendoU

Gene Aliases

HGNC Name

endonuclease, poly(U) specific

HGNC Alias Symbols

PP11; P11; PRSS26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001172439.2
p.H218Y
c.652C>T
Surrounding Variants
1 paper
NM_001172439.2
p.E217G
c.650A>G
1 paper
NM_001172439.2
p.F219F
c.657C>T
1 paper
NM_001172439.2
p.E217_A221delins
c.649_662delinsTCGATAACGTCTGC
1 paper
NM_001172439.2
p.E217_S220delFs
c.650_659del10
1 paper
NM_001172439.2
p.G214insFs
c.641_642insC
1 paper
NM_001172439.2
p.A221delFs
c.663delG
1 paper
NM_001172439.2
p.T213K
c.638C>A
2 papers
NM_001172439.2
p.E223K
c.667G>A
1 paper
NM_001172439.2
p.Y209_A212del4
c.625_635del12
2 papers
NM_001172439.2
p.N207_R211delFs
c.620_633del14
1 paper
NM_001172439.2
p.R211delFs
c.631delG
1 paper
NM_001172439.2
p.R211fs
c.631_632fs
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