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.D14Y

c.40G>T

Surrounding Variants

1 paper

NM_006531.5

p.N24S

c.71A>G

1 paper

NM_006531.5

p.N24K

c.72T>A

1 paper

NM_006531.5

p.P25delFs

c.74delC

1 paper

NM_006531.5

p.M1T

c.2T>C

1 paper

NM_006531.5

p.D28insFs

c.83_84insG

1 paper

NM_006531.5

p.D28E

c.84T>A

1 paper

NM_006531.5

p.E33G

c.98A>G

1 paper

NM_006531.5

p.P51insFs

c.151_152insT