Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.E52Q

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.E52Q
c.154G>C
Surrounding Variants
1 paper
NM_001172439.2
p.D53D
c.159C>T
1 paper
NM_001172439.2
p.D53E
c.159C>G
1 paper
NM_001172439.2
p.D53Fs
c.157_158delinsGFs
1 paper
NM_001172439.2
p.E52del1
c.154_155delTTC
1 paper
NM_001172439.2
p.C50G
c.148T>G
1 paper
NM_001172439.2
p.G48V
c.143G>T
1 paper
NM_001172439.2
p.G48E
c.143G>A
1 paper
NM_001172439.2
p.G48R
c.142G>C
1 paper
NM_001172439.2
p.H56Y
c.166C>T
1 paper
NM_001172439.2
p.H56insFs
c.166dupC
1 paper
NM_001172439.2
p.H47R
c.140A>G
1 paper
NM_001172439.2
p.H47Y
c.139C>T
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