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

3 papers

NM_194302.4

p.W892*

c.2676G>A

Surrounding Variants

3 papers

NM_194302.4

p.W892*

c.2675G>A

1 paper

NM_194302.4

p.L886V

c.2656C>G

1 paper

NM_194302.4

p.L909L

c.2725C>T

1 paper

NM_194302.4

p.E874*

c.2620G>T

1 paper

NM_194302.4

p.Q912delFs

c.2734delG

1 paper

NM_194302.4

p.E914*

c.2740G>T

1 paper

NM_194302.4

p.R922L

c.2765G>T

2 papers

NM_194302.4

p.R922Q

c.2765G>A

1 paper

NM_194302.4

p.A859T

c.2575G>A

1 paper

NM_194302.4

p.Y854delFs

c.2561_2562delAT

1 paper

NM_194302.4

p.S847F

c.2540C>T

1 paper

NM_194302.4

p.Q835K

c.2503C>A