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.R253C

c.757C>T

Surrounding Variants

1 paper

NM_020800.3

p.L254L

c.760T>C

1 paper

NM_020800.3

p.F249delFs

c.747delA

8 papers

NM_020800.3

p.G241R

c.721G>C

8 papers

NM_020800.3

p.G241R

c.721G>A

1 paper

NM_020800.3

p.A236V

c.707C>T

1 paper

NM_020800.3

p.K213_V214Splc

c.639+5A>G

1 paper

NM_020800.3

p.Y212insFs

c.634dupT

1 paper

NM_020800.3

p.K211N

c.633A>T