Varaico: Literature-Extracted Genetic Variants

Gene:RBIS
Variant:p.R49_V50delFs

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
1 paper
NM_001099673.3
p.R49_V50delFs
c.147_148delCT
Surrounding Variants
1 paper
NM_001099673.3
p.V50E
c.149T>A
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.V88_N89ins2
c.264_265ins6
1 paper
NM_001099673.3
p.V88_N89ins2
c.264_265ins6
2 papers
NM_001099673.3
p.N89_V90ins0
c.265_270dup6
1 paper
NM_001099673.3
p.F23V
c.67T>G
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