Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.L193M

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.L193M
c.577C>A
Surrounding Variants
1 paper
NM_001172439.2
p.K192_L193insFs
c.576_577insA
1 paper
NM_001172439.2
p.F194S
c.581T>C
1 paper
NM_001172439.2
p.E191delFs
c.571delC
1 paper
NM_001172439.2
p.S195A
c.583T>G
1 paper
NM_001172439.2
p.V189_N190delFs
c.565_568del4
1 paper
NM_001172439.2
p.V189insFs
c.566dupT
3 papers
NM_001172439.2
p.K196R
c.587A>G
1 paper
NM_001172439.2
p.V189F
c.565G>T
1 paper
NM_001172439.2
p.P197S
c.589C>T
1 paper
NM_001172439.2
p.P197P
c.591C>G
1 paper
NM_001172439.2
p.P197delFs
c.589_590delGG
1 paper
NM_001172439.2
p.Y199*
c.597T>G
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