Varaico: Literature-Extracted Genetic Variants

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 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.L247F

c.739C>T

Surrounding Variants

1 paper

NM_001172439.2

p.K236_F246del11

c.706_737del33

1 paper

NM_001172439.2

p.H248Y

c.742C>T

1 paper

NM_001172439.2

p.L247insFs

c.741dupC

1 paper

NM_001172439.2

p.H248_H249delFs

c.743_746del4

1 paper

NM_001172439.2

p.L243_Y244insFs

c.729_730insTT

1 paper

NM_001172439.2

p.E242del1

c.724_726delCTC

1 paper

NM_001172439.2

p.N251Splc

c.751+1G>A

1 paper

NM_001172439.2

p.M240L

c.718A>T

1 paper

NM_001172439.2

p.V239insFs

c.716dupT

2 papers

NM_001172439.2

p.V239A

c.716T>C

1 paper

NM_001172439.2

p.F230_A238del9

c.688_713del27

2 papers

NM_001172439.2

p.A238V

c.713C>T