Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.T586I

RRP12

80 papers

Pfam Domains

HEAT_RRP12_Naa 95–357UCSCRRP12-like, N-terminal HEAT repeats
RRP12_HEATaa 425–700UCSCRibosomal RNA-processing protein 12, HEAT repeats

Gene Aliases

HGNC Name

ribosomal RNA processing 12 homolog

HGNC Previous Symbol

KIAA0690

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015179.4
p.T586I
c.1757C>T
Surrounding Variants
1 paper
NM_015179.4
p.Y588F
c.1763A>T
2 papers
NM_015179.4
p.R581Q
c.1742G>A
1 paper
NM_015179.4
p.E579G
c.1736A>G
1 paper
NM_015179.4
p.T561N
c.1682C>A
1 paper
NM_015179.4
p.E559K
c.1675G>A
1 paper
NM_015179.4
p.V551M
c.1651G>A
1 paper
NM_015179.4
p.T528T
c.1584G>A
1 paper
NM_015179.4
p.S522S
c.1566C>T
1 paper
NM_015179.4
p.R520C
c.1558C>T
1 paper
NM_015179.4
p.C517Y
c.1550G>A
1 paper
NM_015179.4
p.K511_C512Splc
c.1533+54A>T
1 paper
NM_015179.4
p.V508G
c.1523T>G
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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."