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

1 paper

NM_194302.4

p.L335_Q336del2

c.1003_1007del6

Surrounding Variants

1 paper

NM_194302.4

p.V338M

c.1012G>A

1 paper

NM_194302.4

p.I333T

c.998T>C

1 paper

NM_194302.4

p.G326delFs

c.977delC

1 paper

NM_194302.4

p.A312D

c.935C>A

1 paper

NM_194302.4

p.G293E

c.878G>A

1 paper

NM_194302.4

p.G360C

c.1078G>T

1 paper

NM_194302.4

p.G272Splc

c.815+24C>A

1 paper

NM_194302.4

p.Q379Q

c.1137G>A

1 paper

NM_194302.4

p.R378_Q379del2

c.1132_1136del6

1 paper

NM_194302.4

p.L382P

c.1145T>C

1 paper

NM_194302.4

p.G259R

c.775G>A

1 paper

NM_194302.4

p.L239insFs

c.715dupC