Varaico: Literature-Extracted Genetic Variants

IFT80

86 papers

RefSeq Summary

The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thora...

Pfam Domains

WD40aa 96–134UCSCWD domain, G-beta repeat

WD40aa 178–216UCSCWD domain, G-beta repeat

WD40aa 219–256UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

intraflagellar transport 80

HGNC Previous Symbol

WDR56

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020800.3

p.A663delFs

c.1989delG

Surrounding Variants

1 paper

NM_020800.3

p.L666L

c.1996C>T

1 paper

NM_020800.3

p.G670E

c.2009G>A

1 paper

NM_020800.3

p.V646F

c.1936G>T

1 paper

NM_020800.3

p.V646L

c.1936G>C

1 paper

NM_020800.3

p.G683V

c.2048G>T

1 paper

NM_020800.3

p.R700K

c.2099G>A

1 paper

NM_020800.3

p.A633T

c.1897G>A

1 paper

NM_020800.3

p.A621S

c.1861G>T

1 paper

NM_020800.3

p.R609H

c.1826G>A

2 papers

NM_020800.3

p.T586S

c.1756A>T

1 paper

NM_020800.3

p.R574K

c.1721G>A

1 paper

NM_020800.3

p.E556K

c.1666G>A