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

2 papers

NM_194302.4

p.P592fs

c.1774_1775fs

NM_001278296.2

p.P527fs

c.1579_1580fs

Surrounding Variants

1 paper

NM_194302.4

p.P592delFs

c.1775delG

1 paper

NM_194302.4

p.P592delFs

c.1774_1775delGG

1 paper

NM_194302.4

p.P592delFs

c.1775_1776delAG

NM_001278296.2

p.P527delFs

c.1580_1581delAG

1 paper

NM_194302.4

p.A584delFs

c.1751delG

1 paper

NM_194302.4

p.A584G

c.1751C>G

1 paper

NM_194302.4

p.K603_L604insG

c.1807_1811ins3

1 paper

NM_194302.4

p.R580H

c.1739G>A

1 paper

NM_194302.4

p.L612L

c.1836C>A

1 paper

NM_194302.4

p.S563L

c.1688C>T

1 paper

NM_194302.4

p.T560I

c.1679C>T

1 paper

NM_194302.4

p.P552A

c.1654C>G

1 paper

NM_194302.4

p.D621N

c.1861G>A