Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.G298_H300del0

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.G298_H300del0
c.893_898del6
Surrounding Variants
1 paper
NM_001172439.2
p.N301delFs
c.903delG
1 paper
NM_001172439.2
p.G298D
c.893G>A
1 paper
NM_001172439.2
p.G298C
c.892G>T
1 paper
NM_001172439.2
p.R304L
c.911G>T
1 paper
NM_001172439.2
p.R304H
c.911G>A
1 paper
NM_001172439.2
p.Y306H
c.916T>C
1 paper
NM_001172439.2
p.G294fs
c.880_881fs
1 paper
NM_001172439.2
p.Y306fs
c.916_917fs
2 papers
NM_001172439.2
p.K293_G294insFs
c.879_880insA
1 paper
NM_001172439.2
p.K293delFs
c.879delT
1 paper
NM_001172439.2
p.Y306*
c.918C>G
1 paper
NM_001172439.2
p.Y306*
c.918C>A
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