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.G167R

c.499G>C

Surrounding Variants

1 paper

NM_020800.3

p.T165A

c.493A>G

1 paper

NM_020800.3

p.L163_Y164delFs

c.487_490del4

1 paper

NM_020800.3

p.S159*

c.476C>G

1 paper

NM_020800.3

p.K211N

c.633A>T

1 paper

NM_020800.3

p.Y212insFs

c.634dupT

1 paper

NM_020800.3

p.K213_V214Splc

c.639+5A>G

1 paper

NM_020800.3

p.G147Splc

c.439+3A>T

1 paper

NM_020800.3

p.G147Splc

c.439+2T>A

3 papers

NM_020800.3

p.L143S

c.428T>C

1 paper

NM_020800.3

p.T142S

c.425C>G

1 paper

NM_020800.3

p.T142S

c.424A>T

1 paper

NM_020800.3

p.G137E

c.410G>A