Varaico: Literature-Extracted Genetic Variants

Gene:RRP7A
Variant:p.R258H

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.R258H
c.773G>A
Surrounding Variants
1 paper
NM_015703.5
p.K259R
c.776A>G
1 paper
NM_015703.5
p.K259N
c.777G>T
1 paper
NM_015703.5
p.K259N
c.777G>C
1 paper
NM_015703.5
p.Q256H
c.768G>T
1 paper
NM_015703.5
p.Q256H
c.768G>C
1 paper
NM_015703.5
p.K260E
c.778A>G
1 paper
NM_015703.5
p.Q256*
c.766C>T
3 papers
NM_015703.5
p.F261F
c.783C>T
1 paper
NM_015703.5
p.E262K
c.784G>A
1 paper
NM_015703.5
p.E262G
c.785A>G
1 paper
NM_015703.5
p.H253Y
c.757C>T
1 paper
NM_015703.5
p.I268M
c.804C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."