Varaico: Literature-Extracted Genetic Variants

Gene:CIROZ
Variant:p.R713C

CIROZ

73 papers

Gene Aliases

HGNC Name

ciliated left-right organizer protein containing ZP-N domains

HGNC Previous Symbol

C1orf127

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001170754.2
p.R713C
c.2137C>T
Surrounding Variants
1 paper
NM_001170754.2
p.G727fs
c.2179_2180fs
1 paper
NM_001170754.2
p.P698L
c.2093C>T
1 paper
NM_001170754.2
p.G727delFs
c.2181delC
1 paper
NM_001170754.2
p.A697V
c.2090C>T
1 paper
NM_001170754.2
p.R694K
c.2081G>A
1 paper
NM_001170754.2
p.G689R
c.2065G>A
1 paper
NM_001170754.2
p.P677S
c.2029C>T
1 paper
NM_001170754.2
p.V749insFs
c.2245dupG
2 papers
NM_001170754.2
p.V749fs
c.2245_2246fs
1 paper
NM_001170754.2
p.H751Q
c.2253C>A
1 paper
NM_001170754.2
p.A662V
c.1985C>T
1 paper
NM_001170754.2
p.P766H
c.2297C>A
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