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.T142S

c.425C>G

Surrounding Variants

1 paper

NM_020800.3

p.T142S

c.424A>T

3 papers

NM_020800.3

p.L143S

c.428T>C

1 paper

NM_020800.3

p.G137E

c.410G>A

1 paper

NM_020800.3

p.G147Splc

c.439+2T>A

1 paper

NM_020800.3

p.G147Splc

c.439+3A>T

2 papers

NM_020800.3

p.S134*

c.401C>G

2 papers

NM_020800.3

p.S134*

c.401C>A

2 papers

NM_020800.3

p.V124Splc

c.371-10C>A

1 paper

NM_020800.3

p.C106R

c.316T>C

5 papers

NM_020800.3

p.H105Q

c.315C>G

5 papers

NM_020800.3

p.H105Q

c.315C>A

1 paper

NM_020800.3

p.E103V

c.308A>T