Varaico: Literature-Extracted Genetic Variants

Gene:CFAP74
Variant:p.K348M

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.K348M
c.1043A>T
Surrounding Variants
1 paper
NM_001304360.2
p.R339C
c.1015C>T
1 paper
NM_001304360.2
p.L335_V336del2
c.1003_1007del6
3 papers
NM_001304360.2
p.G328D
c.983G>A
1 paper
NM_001304360.2
p.A323V
c.968C>T
1 paper
NM_001304360.2
p.A313V
c.938C>T
1 paper
NM_001304360.2
p.W305C
c.915G>T
4 papers
NM_001304360.2
p.Q303delFs
c.907delG
1 paper
NM_001304360.2
p.Q303fs
c.907_908fs
1 paper
NM_001304360.2
p.R296_D297Splc
c.888+62C>G
1 paper
NM_001304360.2
p.R296_D297Splc
c.888+1G>C
1 paper
NM_001304360.2
p.R296_D297Splc
c.888+1G>A
1 paper
NM_001304360.2
p.R296Q
c.887G>A
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