Varaico: Literature-Extracted Genetic Variants

Gene:RRS1
Variant:p.Q116H

RRS1

49 papers

Pfam Domains

RRS1aa 31–193UCSCRibosome biogenesis regulatory protein (RRS1)

Gene Aliases

HGNC Name

regulator of ribosome synthesis 1

HGNC Alias Symbol

KIAA0112

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_015169.4
p.Q116H
c.348G>C
Surrounding Variants
4 papers
NM_015169.4
p.Q116H
c.348G>T
1 paper
NM_015169.4
p.K128del1
c.382_383delAAG
1 paper
NM_015169.4
p.E102D
c.306G>C
1 paper
NM_015169.4
p.E102D
c.306G>T
1 paper
NM_015169.4
p.D134G
c.401A>G
1 paper
NM_015169.4
p.R91fs
c.271_272fs
1 paper
NM_015169.4
p.R91W
c.271C>T
1 paper
NM_015169.4
p.R91_P93delFs
c.271_277del7
1 paper
NM_015169.4
p.A87T
c.259G>A
1 paper
NM_015169.4
p.R83C
c.247C>T
1 paper
NM_015169.4
p.D151G
c.452A>G
1 paper
NM_015169.4
p.E82K
c.244G>A
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