Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.G312delins

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.G312delins
c.936delinsC
Surrounding Variants
1 paper
NM_001172439.2
p.G312Fs
c.934_936delinsCFs
1 paper
NM_001172439.2
p.D315N
c.943G>A
1 paper
NM_001172439.2
p.D315_Y316delFs
c.943_946del4
2 papers
NM_001172439.2
p.V314_D315delFs
c.941_945del5
1 paper
NM_001172439.2
p.E308A
c.923A>C
1 paper
NM_001172439.2
p.E308K
c.922G>A
1 paper
NM_001172439.2
p.Y317*
c.951C>G
1 paper
NM_001172439.2
p.Y317insFs
c.950dupA
2 papers
NM_001172439.2
p.Y317*
c.951C>A
1 paper
NM_001172439.2
p.Y306*
c.918C>G
1 paper
NM_001172439.2
p.Y306*
c.918C>A
1 paper
NM_001172439.2
p.D315_S318del4
c.943_953del12
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