Varaico: Literature-Extracted Genetic Variants

Gene:CFAP99
Variant:p.K188*

CFAP99

36 papers

Pfam Domains

CFAP99_CCaa 300–431UCSCCFAP99 V-shaped coiled-coil domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 99

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001193282.4
p.K188*
c.562A>T
Surrounding Variants
1 paper
NM_001193282.4
p.V208V
c.624C>T
1 paper
NM_001193282.4
p.P212R
c.635C>G
1 paper
NM_001193282.4
p.P152H
c.455C>A
1 paper
NM_001193282.4
p.D151N
c.451G>A
1 paper
NM_001193282.4
p.Y140Y
c.420C>T
1 paper
NM_001193282.4
p.W136C
c.408G>C
1 paper
NM_001193282.4
p.W136C
c.408G>T
1 paper
NM_001193282.4
p.P214_V215Splc
c.643-1G>A
1 paper
NM_001193282.4
p.R238Q
c.713G>A
2 papers
NM_001193282.4
p.R253C
c.757C>T
1 paper
NM_001193282.4
p.Q265_G266Splc
c.795+47C>G
1 paper
NM_001193282.4
p.R280*
c.838C>T
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