Varaico: Literature-Extracted Genetic Variants

Gene:RRP7A

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
1–12 of 111 variants
10 papers
NM_015703.5
p.R224W
c.670C>T
3 papers
NM_015703.5
p.N65S
c.194A>G
3 papers
NM_015703.5
p.V85I
c.253G>A
3 papers
NM_015703.5
p.Y120Y
c.360T>C
3 papers
NM_015703.5
p.F261F
c.783C>T
2 papers
NM_015703.5
p.I156N
c.467T>A
2 papers
NM_015703.5
p.E187Q
c.559G>C
2 papers
NM_015703.5
p.R272Q
c.815G>A
2 papers
NM_015703.5
p.F277L
c.831C>A
1 paper
NM_015703.5
p.M1T
c.2T>C
1 paper
NM_015703.5
p.R4fs
c.10_11fs
1 paper
NM_015703.5
p.K7*
c.19A>T
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