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.A701T

c.2101G>A

Surrounding Variants

7 papers

NM_020800.3

p.A701P

c.2101G>C

3 papers

NM_020800.3

p.R719C

c.2155C>T

1 paper

NM_020800.3

p.R719H

c.2156G>A

1 paper

NM_020800.3

p.Q729R

c.2186A>G

1 paper

NM_020800.3

p.R734*

c.2200C>T

1 paper

NM_020800.3

p.Y738N

c.2212T>A

1 paper

NM_020800.3

p.R700K

c.2099G>A

1 paper

NM_020800.3

p.G683V

c.2048G>T

1 paper

NM_020800.3

p.G670E

c.2009G>A

1 paper

NM_020800.3

p.L666L

c.1996C>T

1 paper

NM_020800.3

p.A663delFs

c.1989delG

1 paper

NM_020800.3

p.V646F

c.1936G>T