Varaico: Literature-Extracted Genetic Variants

Gene:CFAP74
Variant:p.R829Splc

CFAP74

119 papers

Pfam Domains

Ig_CFAP74_1staa 515–611UCSCCFAP74 first Ig-like domain
Ig-CFAP74_2aa 618–800UCSCCFAP74 second Ig-like domain
Ig-CFAP74_3rdaa 802–914UCSCCFAP74 third Ig-like domain
Ig-CFAP74_4thaa 920–1016UCSCCFAP74 forth Ig-like domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 74

HGNC Previous Symbols

C1orf222; KIAA1751

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001304360.2
p.R829Splc
c.2487-30C>T
Surrounding Variants
1 paper
NM_001304360.2
p.T854delFs
c.2561_2562delTG
1 paper
NM_001304360.2
p.R818W
c.2452C>T
4 papers
NM_001304360.2
p.V800L
c.2398G>T
4 papers
NM_001304360.2
p.V800L
c.2398G>C
4 papers
NM_001304360.2
p.D799_V800delins
c.2397_2398delinsCC
1 paper
NM_001304360.2
p.V794L
c.2380G>T
1 paper
NM_001304360.2
p.V794M
c.2380G>A
1 paper
NM_001304360.2
p.G928D
c.2783G>A
1 paper
NM_001304360.2
p.R937T
c.2810G>C
1 paper
NM_001304360.2
p.P949P
c.2847C>T
1 paper
NM_001304360.2
p.V955V
c.2865C>T
1 paper
NM_001304360.2
p.E990K
c.2968G>A
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