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

1–12 of 104 variants

3 papers

NM_006531.5

p.L260*

c.779T>A

3 papers

NM_006531.5

p.L260*

c.779T>G

2 papers

NM_006531.5

p.G68insFs

c.203_204insC

2 papers

NM_006531.5

p.L193S

c.578T>C

2 papers

NM_006531.5

p.R257Q

c.770G>A

2 papers

NM_006531.5

p.L305L

c.915G>C

2 papers

NM_006531.5

p.Y460*

c.1380T>A

2 papers

NM_006531.5

p.Y460*

c.1380T>G

2 papers

NM_006531.5

p.L703*

c.2108T>A

2 papers

NM_006531.5

p.L703*

c.2108T>G

1 paper

NM_006531.5

p.M1T

c.2T>C

1 paper

NM_006531.5

p.D14Y

c.40G>T