Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.V508G

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.V508G
c.1523T>G
Surrounding Variants
1 paper
NM_015179.4
p.E499E
c.1497G>A
1 paper
NM_015179.4
p.K511_C512Splc
c.1533+54A>T
1 paper
NM_015179.4
p.E477K
c.1429G>A
1 paper
NM_015179.4
p.A474T
c.1420G>A
1 paper
NM_015179.4
p.K470E
c.1408A>G
1 paper
NM_015179.4
p.G463V
c.1388G>T
1 paper
NM_015179.4
p.G463D
c.1388G>A
1 paper
NM_015179.4
p.S460S
c.1380G>A
1 paper
NM_015179.4
p.C517Y
c.1550G>A
1 paper
NM_015179.4
p.R520C
c.1558C>T
1 paper
NM_015179.4
p.S522S
c.1566C>T
1 paper
NM_015179.4
p.T528T
c.1584G>A
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