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

1–12 of 278 variants

9 papers

NM_194302.4

p.E1781*

c.5341G>T

4 papers

NM_194302.4

p.M1L

c.1A>C

4 papers

NM_194302.4

p.M66L

c.196A>T

4 papers

NM_194302.4

p.M66L

c.196A>C

4 papers

NM_194302.4

p.R762*

c.2284C>T

3 papers

NM_194302.4

p.W892*

c.2675G>A

3 papers

NM_194302.4

p.W892*

c.2676G>A

2 papers

NM_194302.4

p.M1L

c.1A>T

2 papers

NM_194302.4

p.D105G

c.314A>G

2 papers

NM_194302.4

p.S114_T115insFs

c.340_344dup5

2 papers

NM_194302.4

p.L206delFs

c.616delG

2 papers

NM_194302.4

p.P592fs

c.1774_1775fs