Varaico: Literature-Extracted Genetic Variants

CFAP65

167 papers

RefSeq Summary

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromoso...

Pfam Domains

HYDIN_VesB_CFA65-like_Igaa 243–337UCSCHYDIN/CFA65/VesB-like, Ig-like domain

Ig_CFAP65_4thaa 471–565UCSCCFAP65, fourth Ig-like domain

Ig_CFAP65_7thaa 878–977UCSCCFAP65, seventh Ig-like domain

Ig_CFAP65_8thaa 989–1103UCSCCFAP65, eight Ig-like domain

Ig_CFAP65__9thaa 1106–1287UCSCCilia- and flagella-associated protein 65-like, Ig-like domain

Ig_CFAP65aa 1289–1410UCSCCilia- and flagella-associated protein 65-like, Ig-like domain

Gene Aliases

HGNC Name

cilia and flagella associated protein 65

HGNC Previous Symbol

CCDC108

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_194302.4

p.S114_T115insFs

c.340_344dup5

Surrounding Variants

1 paper

NM_194302.4

p.T115delFs

c.343delT

1 paper

NM_194302.4

p.A112delFs

c.335_336delGG

1 paper

NM_194302.4

p.Q119_P120Splc

c.357+2T>C

1 paper

NM_194302.4

p.S106N

c.317G>A

2 papers

NM_194302.4

p.D105G

c.314A>G

1 paper

NM_194302.4

p.R77G

c.229A>G

1 paper

NM_194302.4

p.V76M

c.226G>A

1 paper

NM_194302.4

p.A71delFs

c.211delC

4 papers

NM_194302.4

p.M66L

c.196A>T

4 papers

NM_194302.4

p.M66L

c.196A>C

1 paper

NM_194302.4

p.K64K

c.192G>A

1 paper

NM_194302.4

p.C62S

c.185G>C