Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.L12Q

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.L12Q
c.35T>A
Surrounding Variants
1 paper
NM_001172439.2
p.L9_V11insFs
c.26_33dup8
1 paper
NM_001172439.2
p.C13G
c.37T>G
1 paper
NM_001172439.2
p.V11_L12insFs
c.33_34insC
1 paper
NM_001172439.2
p.G14R
c.40G>C
1 paper
NM_001172439.2
p.G14S
c.40G>A
1 paper
NM_001172439.2
p.L9del1
c.25_26delCAA
1 paper
NM_001172439.2
p.C13_G14del2
c.37_41del6
1 paper
NM_001172439.2
p.L9W
c.26T>G
3 papers
NM_001172439.2
p.L9S
c.26T>C
1 paper
NM_001172439.2
p.L9*
c.26T>A
1 paper
NM_001172439.2
p.L12_L15delFs
c.35_44del10
1 paper
NM_001172439.2
p.L7insFs
c.21dupG
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