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.C40S

c.119G>C

Surrounding Variants

1 paper

NM_001172439.2

p.Q39P

c.116A>C

1 paper

NM_001172439.2

p.C38_C40delFs

c.112_119del8

1 paper

NM_001172439.2

p.Q39*

c.115C>T

1 paper

NM_001172439.2

p.Q39_D41del3

c.115_122del9

1 paper

NM_001172439.2

p.R43W

c.127C>T

2 papers

NM_001172439.2

p.R43P

c.128G>C

1 paper

NM_001172439.2

p.A37S

c.109G>T

1 paper

NM_001172439.2

p.A36insFs

c.108dupT

1 paper

NM_001172439.2

p.A36delFs

c.108delA

1 paper

NM_001172439.2

p.A36G

c.107C>G

1 paper

NM_001172439.2

p.D35E

c.105C>G

1 paper

NM_001172439.2

p.D35_C44del10

c.103_131del30