Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.K790*

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.K790*
c.2368A>T
Surrounding Variants
1 paper
NM_015179.4
p.A800S
c.2398G>T
1 paper
NM_015179.4
p.E861*
c.2581G>T
1 paper
NM_015179.4
p.L864L
c.2590C>T
1 paper
NM_015179.4
p.F878L
c.2632T>C
1 paper
NM_015179.4
p.F878L
c.2634T>G
1 paper
NM_015179.4
p.F878L
c.2634T>A
1 paper
NM_015179.4
p.V882M
c.2644G>A
1 paper
NM_015179.4
p.E883G
c.2648A>G
1 paper
NM_015179.4
p.G892D
c.2675G>A
1 paper
NM_015179.4
p.L927P
c.2780T>C
1 paper
NM_015179.4
p.F931insFs
c.2791_2792ins17
1 paper
NM_015179.4
p.V758M
c.2272G>A
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