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

1–12 of 86 variants

8 papers

NM_020800.3

p.G241R

c.721G>C

8 papers

NM_020800.3

p.G241R

c.721G>A

7 papers

NM_020800.3

p.A701P

c.2101G>C

5 papers

NM_020800.3

p.H105Q

c.315C>G

5 papers

NM_020800.3

p.H105Q

c.315C>A

4 papers

NM_020800.3

p.L549del1

c.1645_1646delTAA

3 papers

NM_020800.3

p.L143S

c.428T>C

3 papers

NM_020800.3

p.K449*

c.1345A>T

3 papers

NM_020800.3

p.R719C

c.2155C>T

2 papers

NM_020800.3

p.V124Splc

c.371-10C>A

2 papers

NM_020800.3

p.S134*

c.401C>G

2 papers

NM_020800.3

p.S134*

c.401C>A