Varaico: Literature-Extracted Genetic Variants

IFT88

113 papers

RefSeq Summary

This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease...

Pfam Domains

TPR_8aa 272–305UCSCTetratricopeptide repeat

TPR_6aa 306–334UCSCTetratricopeptide repeat

TPR_6aa 657–687UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

intraflagellar transport 88

HGNC Previous Symbol

TTC10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006531.5

p.E33G

c.98A>G

Surrounding Variants

1 paper

NM_006531.5

p.P51insFs

c.151_152insT

1 paper

NM_006531.5

p.T59R

c.176C>G

1 paper

NM_006531.5

p.T62T

c.186T>A

2 papers

NM_006531.5

p.G68insFs

c.203_204insC

1 paper

NM_006531.5

p.S74F

c.221C>T

1 paper

NM_006531.5

p.P82S

c.244C>T

1 paper

NM_006531.5

p.M83_T84insG

c.247_251ins3

1 paper

NM_006531.5

p.T84A

c.250A>G

1 paper

NM_006531.5

p.D28E

c.84T>A

1 paper

NM_006531.5

p.D28insFs

c.83_84insG

1 paper

NM_006531.5

p.N24K

c.72T>A

1 paper

NM_006531.5

p.P25delFs

c.74delC