Varaico: Literature-Extracted Genetic Variants

Gene:CFAP74
Variant:p.V794L

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.V794L
c.2380G>T
Surrounding Variants
1 paper
NM_001304360.2
p.V794M
c.2380G>A
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.R818W
c.2452C>T
1 paper
NM_001304360.2
p.Q785Q
c.2355G>A
1 paper
NM_001304360.2
p.A775T
c.2323G>A
1 paper
NM_001304360.2
p.P762_I763delFs
c.2286_2287delTG
1 paper
NM_001304360.2
p.V761V
c.2283G>T
1 paper
NM_001304360.2
p.G751V
c.2252G>T
1 paper
NM_001304360.2
p.V748A
c.2243T>C
1 paper
NM_001304360.2
p.R829Splc
c.2487-30C>T
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