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

2 papers

NM_006531.5

p.G68insFs

c.203_204insC

Surrounding Variants

1 paper

NM_006531.5

p.T62T

c.186T>A

1 paper

NM_006531.5

p.T59R

c.176C>G

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.G102delFs

c.304_305delGG

1 paper

NM_006531.5

p.T104S

c.310A>T

1 paper

NM_006531.5

p.A107T

c.319G>A

1 paper

NM_006531.5

p.D114G

c.341A>G

1 paper

NM_175605.5

p.P124fs

c.370_371fs

1 paper

NM_175605.5

p.P124_E136Fs

c.371_408delinsAAGAAAAAAGFs