Varaico: Literature-Extracted Genetic Variants

Gene:CFAP96
Variant:p.P235L

CFAP96

25 papers

Pfam Domains

CFAP96-likeaa 8–293UCSCCilia-and flagella-associated protein 96

Gene Aliases

HGNC Name

cilia and flagella associated protein 96

HGNC Previous Symbol

C4orf47

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001114357.3
p.P235L
c.704C>T
Surrounding Variants
1 paper
NM_001114357.3
p.P232P
c.696G>A
1 paper
NM_001114357.3
p.P232Q
c.695C>A
1 paper
NM_001114357.3
p.P192A
c.574C>G
1 paper
NM_001114357.3
p.H184R
c.551A>G
1 paper
NM_001114357.3
p.G240A
c.719G>C
3 papers
NM_001114357.3
p.V259delFs
c.775delG
2 papers
NM_001114357.3
p.V259fs
c.775_776fs
1 paper
NM_001114357.3
p.V259fs
c.775_776fs
2 papers
NM_001114357.3
p.A260T
c.778G>A
1 paper
NM_001114357.3
p.D270_K271insA
c.808_812ins3
2 papers
NM_001114357.3
p.Q162*
c.484C>T
1 paper
NM_001114357.3
p.L290S
c.869T>C
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