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_001190242.2

p.D350E

c.1050T>G

Surrounding Variants

1 paper

NM_001190242.2

p.D350E

c.1050T>A

1 paper

NM_020800.3

p.R495*

c.1483C>T

1 paper

NM_020800.3

p.E500*

c.1498G>T

1 paper

NM_020800.3

p.E500G

c.1499A>G

1 paper

NM_020800.3

p.L521F

c.1561C>T

1 paper

NM_020800.3

p.L545F

c.1635G>T

1 paper

NM_020800.3

p.L545F

c.1635G>C

4 papers

NM_020800.3

p.L549del1

c.1645_1646delTAA

1 paper

NM_020800.3

p.E556K

c.1666G>A

1 paper

NM_020800.3

p.R574K

c.1721G>A

2 papers

NM_020800.3

p.T586S

c.1756A>T

1 paper

NM_020800.3

p.K460K

c.1380G>A