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.K1747N

c.5241G>C

Surrounding Variants

1 paper

NM_194302.4

p.K1747N

c.5241G>T

1 paper

NM_194302.4

p.P1746P

c.5238G>A

1 paper

NM_194302.4

p.G1743S

c.5227G>A

1 paper

NM_194302.4

p.L1757*

c.5270T>A

1 paper

NM_194302.4

p.K1760E

c.5278A>G

1 paper

NM_194302.4

p.E1765K

c.5293G>A

1 paper

NM_194302.4

p.K1767R

c.5300A>G

1 paper

NM_194302.4

p.G1768D

c.5303G>A

1 paper

NM_194302.4

p.Y1726N

c.5176T>A

1 paper

NM_194302.4

p.E1769E

c.5307A>G

1 paper

NM_194302.4

p.E1770K

c.5308G>A

2 papers

NM_194302.4

p.E1774_L1775del2

c.5320_5324del6