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.D621insFs

c.1862dupA

Surrounding Variants

1 paper

NM_194302.4

p.D621N

c.1861G>A

1 paper

NM_194302.4

p.A624T

c.1870G>A

2 papers

NM_194302.4

p.P649fs

c.1945_1946fs

2 papers

NM_194302.4

p.P649delFs

c.1946delG

2 papers

NM_194302.4

p.E657K

c.1969G>A

1 paper

NM_001278296.2

p.E592delFs

c.1775_1776delCT

1 paper

NM_194302.4

p.P664L

c.1991C>T

1 paper

NM_194302.4

p.P666H

c.1997C>A

1 paper

NM_194302.4

p.L612L

c.1836C>A

1 paper

NM_194302.4

p.V698delFs

c.2092delC

1 paper

NM_194302.4

p.K603_L604insG

c.1807_1811ins3

1 paper

NM_194302.4

p.P707fs

c.2119_2120fs