Varaico: Literature-Extracted Genetic Variants

Gene:RRP7A
Variant:p.R48*

RRP7A

43 papers

Pfam Domains

RRM_Rrp7aa 20–107UCSCRrp7 RRM-like N-terminal domain
RRP7aa 160–280UCSCRibosomal RNA-processing protein 7 (RRP7) C-terminal domain

Gene Aliases

HGNC Name

ribosomal RNA processing 7 homolog A

HGNC Alias Symbols

CGI-96; Rrp7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015703.5
p.R48*
c.142C>T
Surrounding Variants
1 paper
NM_015703.5
p.R48Q
c.143G>A
1 paper
NM_015703.5
p.H45R
c.134A>G
1 paper
NM_015703.5
p.H45fs
c.133_134fs
1 paper
NM_015703.5
p.Y41H
c.121T>C
1 paper
NM_015703.5
p.L40L
c.120C>T
1 paper
NM_015703.5
p.L40P
c.119T>C
1 paper
NM_015703.5
p.P56S
c.166C>T
1 paper
NM_015703.5
p.R59K
c.176G>A
1 paper
NM_015703.5
p.L61V
c.181C>G
1 paper
NM_015703.5
p.L64F
c.190C>T
3 papers
NM_015703.5
p.N65S
c.194A>G
1 paper
NM_015703.5
p.P67H
c.200C>A
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