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

4 papers

NM_194302.4

p.R762*

c.2284C>T

Surrounding Variants

1 paper

NM_194302.4

p.R762_G763delFs

c.2286_2287delCT

1 paper

NM_194302.4

p.T758M

c.2273C>T

1 paper

NM_194302.4

p.E771*

c.2311G>T

1 paper

NM_194302.4

p.S741N

c.2222G>A

1 paper

NM_194302.4

p.T727M

c.2180C>T

1 paper

NM_194302.4

p.P719P

c.2157G>A

1 paper

NM_194302.4

p.R714H

c.2141G>A

1 paper

NM_194302.4

p.S710Y

c.2129C>A

1 paper

NM_194302.4

p.S710A

c.2128T>G

1 paper

NM_194302.4

p.P707fs

c.2119_2120fs

1 paper

NM_194302.4

p.P707delFs

c.2120delG

1 paper

NM_194302.4

p.P707fs

c.2119_2120fs