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.M1L

c.1A>C

Surrounding Variants

2 papers

NM_194302.4

p.M1L

c.1A>T

1 paper

NM_194302.4

p.M1T

c.2T>C

1 paper

NM_194302.4

p.M1insFs

c.2dupT

1 paper

NM_194302.4

p.M1delFs

c.2delA

1 paper

NM_194302.4

p.M1insFs

c.3dupG

1 paper

NM_194302.4

p.G6S

c.16G>A

1 paper

NM_194302.4

p.R8T

c.23G>C

1 paper

NM_194302.4

p.V16V

c.48G>A

1 paper

NM_194302.4

p.P19L

c.56C>T

1 paper

NM_194302.4

p.A24A

c.72C>A

1 paper

NM_194302.4

p.L33F

c.97C>T

1 paper

NM_194302.4

p.R35G

c.103A>G