Varaico: Literature-Extracted Genetic Variants

Gene:CIROZ
Variant:p.H751Q

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
1 paper
NM_001170754.2
p.H751Q
c.2253C>A
Surrounding Variants
2 papers
NM_001170754.2
p.V749fs
c.2245_2246fs
1 paper
NM_001170754.2
p.V749insFs
c.2245dupG
1 paper
NM_001170754.2
p.P766H
c.2297C>A
1 paper
NM_001170754.2
p.S773N
c.2318G>A
1 paper
NM_001170754.2
p.G727delFs
c.2181delC
1 paper
NM_001170754.2
p.G727fs
c.2179_2180fs
1 paper
NM_001170754.2
p.A787fs
c.2359_2360fs
3 papers
NM_001170754.2
p.R713C
c.2137C>T
1 paper
NM_001170754.2
p.Q791R
c.2372A>G
1 paper
NM_001170754.2
p.P698L
c.2093C>T
1 paper
NM_001170754.2
p.A697V
c.2090C>T
1 paper
NM_001170754.2
p.R694K
c.2081G>A
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