Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.H350Y

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.H350Y
c.1048C>T
Surrounding Variants
1 paper
NM_015179.4
p.L352F
c.1054C>T
1 paper
NM_015179.4
p.F353L
c.1057T>C
1 paper
NM_015179.4
p.M346T
c.1037T>C
1 paper
NM_015179.4
p.F353L
c.1059C>G
1 paper
NM_015179.4
p.F353L
c.1059C>A
1 paper
NM_015179.4
p.A368T
c.1102G>A
1 paper
NM_015179.4
p.T372M
c.1115C>T
2 papers
NM_015179.4
p.Y375N
c.1123T>A
1 paper
NM_015179.4
p.P386P
c.1158C>T
1 paper
NM_015179.4
p.L336L
c.1008G>A
1 paper
NM_015179.4
p.L336*
c.1007T>A
1 paper
NM_015179.4
p.G321D
c.962G>A
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