Varaico: Literature-Extracted Genetic Variants

Gene:CFAP69
Variant:p.Y112delFs

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.Y112delFs
c.335_336delAT
Surrounding Variants
1 paper
NM_001039706.3
p.A111S
c.331G>T
1 paper
NM_001039706.3
p.G119Splc
c.356+1G>T
1 paper
NM_001039706.3
p.I101insFs
c.302dupT
1 paper
NM_001039706.3
p.K126_V127delFs
c.378_379delAG
1 paper
NM_001039706.3
p.L82_P83Splc
c.246+110G>T
1 paper
NM_001039706.3
p.V75_N80insFs
c.224_240dup17
1 paper
NM_001039706.3
p.K73*
c.217A>T
1 paper
NM_001039706.3
p.K72N
c.216G>C
1 paper
NM_001039706.3
p.K72N
c.216G>T
1 paper
NM_001039706.3
p.K72R
c.215A>G
1 paper
NM_001039706.3
p.V71delFs
c.211delG
1 paper
NM_001039706.3
p.D61E
c.183T>G
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