Varaico: Literature-Extracted Genetic Variants

Gene:RRP1B
Variant:p.M119_L120Splc

RRP1B

59 papers

Pfam Domains

Nop52aa 7–277UCSCNucleolar protein,Nop52

Gene Aliases

HGNC Name

ribosomal RNA processing 1B

HGNC Previous Symbol

KIAA0179

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015056.3
p.M119_L120Splc
c.358-2A>T
Surrounding Variants
1 paper
NM_015056.3
p.I121F
c.361A>T
1 paper
NM_015056.3
p.S140Splc
c.420-47C>T
1 paper
NM_015056.3
p.R141L
c.422G>T
2 papers
NM_015056.3
p.L146L
c.436T>C
1 paper
NM_015056.3
p.I169V
c.505A>G
1 paper
NM_015056.3
p.K107N
c.321A>C
1 paper
NM_015056.3
p.K107N
c.321A>T
1 paper
NM_015056.3
p.E105K
c.313G>A
1 paper
NM_015056.3
p.L93V
c.277C>G
1 paper
NM_015056.3
p.D243G
c.728A>G
1 paper
NM_015056.3
p.H83Y
c.247C>T
1 paper
NM_015056.3
p.A302G
c.905C>G
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