Varaico: Literature-Extracted Genetic Variants

Gene:CFAP69
Variant:p.K72R

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.K72R
c.215A>G
Surrounding Variants
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.K73*
c.217A>T
1 paper
NM_001039706.3
p.V71delFs
c.211delG
1 paper
NM_001039706.3
p.V75_N80insFs
c.224_240dup17
1 paper
NM_001039706.3
p.D61E
c.183T>G
1 paper
NM_001039706.3
p.L82_P83Splc
c.246+110G>T
1 paper
NM_001039706.3
p.L55P
c.164T>C
1 paper
NM_001039706.3
p.R50H
c.149G>A
1 paper
NM_001039706.3
p.R50L
c.149G>T
1 paper
NM_001039706.3
p.L48F
c.142C>T
1 paper
NM_001039706.3
p.L48_N49del1
c.143_145delTTA
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