Varaico: Literature-Extracted Genetic Variants

Gene:RBIS
Variant:p.N89_V90ins0

RBIS

14 papers

Pfam Domains

DUF4665aa 1–100UCSCDomain of unknown function (DUF4665)

Gene Aliases

HGNC Name

ribosomal biogenesis factor

HGNC Previous Symbol

C8orf59

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001099673.3
p.N89_V90ins0
c.265_270dup6
Surrounding Variants
1 paper
NM_001099673.3
p.V88_N89ins2
c.264_265ins6
1 paper
NM_001099673.3
p.V88_N89ins2
c.264_265ins6
1 paper
NM_001099673.3
p.V50E
c.149T>A
1 paper
NM_001099673.3
p.R49_V50delFs
c.147_148delCT
2 papers
NM_001099673.3
p.R49_V50ins2
c.147_148ins6
1 paper
NM_001099673.3
p.V50I
c.148G>A
1 paper
NM_001099673.3
p.R49fs
c.145_146fs
1 paper
NM_001099673.3
p.F23V
c.67T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."