Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.Y199*

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.Y199*
c.597T>G
Surrounding Variants
1 paper
NM_001172439.2
p.Y199*
c.597T>A
1 paper
NM_001172439.2
p.A201G
c.602C>G
1 paper
NM_001172439.2
p.P197delFs
c.589_590delGG
1 paper
NM_001172439.2
p.P197P
c.591C>G
1 paper
NM_001172439.2
p.P197S
c.589C>T
3 papers
NM_001172439.2
p.K196R
c.587A>G
1 paper
NM_001172439.2
p.F202del1
c.604_606delGAA
1 paper
NM_001172439.2
p.S195A
c.583T>G
1 paper
NM_001172439.2
p.A200_N204del0
c.600_611del12
1 paper
NM_001172439.2
p.F194S
c.581T>C
1 paper
NM_001172439.2
p.A200_N204del5
c.598_611del15
1 paper
NM_001172439.2
p.L206P
c.617T>C
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