Varaico: Literature-Extracted Genetic Variants

Gene:RRP7A
Variant:p.E248K

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.E248K
c.742G>A
Surrounding Variants
1 paper
NM_015703.5
p.E248Q
c.742G>C
1 paper
NM_015703.5
p.R247P
c.740G>C
1 paper
NM_015703.5
p.R247Q
c.740G>A
1 paper
NM_015703.5
p.R247*
c.739C>T
1 paper
NM_015703.5
p.R247G
c.739C>G
1 paper
NM_015703.5
p.K250N
c.750G>T
1 paper
NM_015703.5
p.K250N
c.750G>C
1 paper
NM_015703.5
p.Q245R
c.734A>G
1 paper
NM_015703.5
p.E252G
c.755A>G
1 paper
NM_015703.5
p.F241del1
c.721_722delGAA
1 paper
NM_015703.5
p.N240I
c.719A>T
1 paper
NM_015703.5
p.N240H
c.718A>C
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