Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.L231_I234delFs

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.L231_I234delFs
c.693_700del8
Surrounding Variants
1 paper
NM_001172439.2
p.E233E
c.699G>A
1 paper
NM_001172439.2
p.M235R
c.704T>G
1 paper
NM_001172439.2
p.E233*
c.697G>T
2 papers
NM_001172439.2
p.E233_K236delFs
c.699_706del8
1 paper
NM_001172439.2
p.F230delFs
c.690delG
4 papers
NM_001172439.2
p.L231F
c.691C>T
1 paper
NM_001172439.2
p.L231_R232insT
c.691_695ins3
2 papers
NM_001172439.2
p.A221_T237delFs
c.663_711del49
1 paper
NM_001172439.2
p.F230_L231insFs
c.690_691insA
2 papers
NM_001172439.2
p.A238V
c.713C>T
1 paper
NM_001172439.2
p.F230_A238del9
c.688_713del27
2 papers
NM_001172439.2
p.V239A
c.716T>C
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