Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.S6P

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
2 papers
NM_001172439.2
p.S6P
c.16T>C
Surrounding Variants
1 paper
NM_001172439.2
p.I5delFs
c.15delG
1 paper
NM_001172439.2
p.I5delFs
c.13_14delAT
1 paper
NM_001172439.2
p.M1_C4del4
c.1_11del12
1 paper
NM_001172439.2
p.L7M
c.19C>A
1 paper
NM_001172439.2
p.V8L
c.22G>C
1 paper
NM_001172439.2
p.L7insFs
c.21dupG
1 paper
NM_001172439.2
p.A3_C4insFs
c.9_10insGT
1 paper
NM_001172439.2
p.R2_A3delFs
c.6_7delCC
1 paper
NM_001172439.2
p.A3S
c.7G>T
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
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