Varaico: Literature-Extracted Genetic Variants

Gene:CFAP69
Variant:p.Q348L

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
1 paper
NM_001039706.3
p.Q348L
c.1043A>T
Surrounding Variants
3 papers
NM_001039706.3
p.L357insFs
c.1069_1070insAC
2 papers
NM_001039706.3
p.L357fs
c.1069_1070fs
1 paper
NM_001039706.3
p.L357insFs
c.1070_1071insAC
1 paper
NM_001039706.3
p.E362*
c.1084G>T
1 paper
NM_001039706.3
p.F364L
c.1092T>G
1 paper
NM_001039706.3
p.N372D
c.1114A>G
1 paper
NM_001039706.3
p.C378_K379del2
c.1132_1136del6
1 paper
NM_001039706.3
p.D335_L336del2
c.1003_1007del6
1 paper
NM_001039706.3
p.G331fs
c.991_992fs
1 paper
NM_001039706.3
p.G331delFs
c.992delG
1 paper
NM_001039706.3
p.S412delFs
c.1235delC
1 paper
NM_001039706.3
p.H422N
c.1264C>A
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