Varaico: Literature-Extracted Genetic Variants

Gene:CIROZ
Variant:p.S372S

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.S372S
c.1116G>T
Surrounding Variants
1 paper
NM_001170754.2
p.G389R
c.1165G>C
1 paper
NM_001170754.2
p.G389R
c.1165G>A
1 paper
NM_001170754.2
p.G389E
c.1166G>A
1 paper
NM_001170754.2
p.Q404fs
c.1210_1211fs
1 paper
NM_001170754.2
p.Q404delFs
c.1210delG
1 paper
NM_001170754.2
p.E414_S417del4
c.1240_1250del12
2 papers
NM_001170754.2
p.R423Q
c.1268G>A
1 paper
NM_001170754.2
p.E414_R423del10
c.1240_1268del30
1 paper
NM_001170754.2
p.A427T
c.1279G>A
3 papers
NM_001170754.2
p.K430_K431Splc
c.1290+2C>T
1 paper
NM_001170754.2
p.L437fs
c.1309_1310fs
1 paper
NM_001170754.2
p.Q438K
c.1312C>A
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