Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.G294fs

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.G294fs
c.880_881fs
Surrounding Variants
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.K293fs
c.877_878fs
2 papers
NM_001172439.2
p.K292_K293insFs
c.876_877insT
1 paper
NM_001172439.2
p.K292insFs
c.875_876insT
1 paper
NM_001172439.2
p.G298C
c.892G>T
1 paper
NM_001172439.2
p.G298D
c.893G>A
1 paper
NM_001172439.2
p.V291I
c.871G>A
1 paper
NM_001172439.2
p.E290D
c.870G>T
1 paper
NM_001172439.2
p.E290D
c.870G>C
1 paper
NM_001172439.2
p.E290A
c.869A>C
1 paper
NM_001172439.2
p.E290Q
c.868G>C
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