Varaico: Literature-Extracted Genetic Variants

Gene:CFAP69
Variant:p.G472S

CFAP69

63 papers

Pfam Domains

CFA69_ARM_rptaa 46–763UCSCCilia- and flagella-associated protein 69, ARM repeat

Gene Aliases

HGNC Name

cilia and flagella associated protein 69

HGNC Previous Symbol

C7orf63

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001039706.3
p.G472S
c.1414G>A
Surrounding Variants
3 papers
NM_001039706.3
p.V490M
c.1468G>A
1 paper
NM_001039706.3
p.D495N
c.1483G>A
1 paper
NM_001039706.3
p.G513R
c.1537G>A
1 paper
NM_001039706.3
p.E455V
c.1364A>T
1 paper
NM_001039706.3
p.V447V
c.1341C>A
2 papers
NM_001039706.3
p.P432S
c.1294C>T
1 paper
NM_001039706.3
p.A425P
c.1273G>C
1 paper
NM_001039706.3
p.H422N
c.1264C>A
1 paper
NM_001039706.3
p.S412delFs
c.1235delC
1 paper
NM_001039706.3
p.G556R
c.1666G>A
1 paper
NM_001039706.3
p.G556R
c.1666G>C
1 paper
NM_001039706.3
p.W592delFs
c.1774_1775delTG
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