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.Y460*

c.1380T>A

Surrounding Variants

2 papers

NM_006531.5

p.Y460*

c.1380T>G

1 paper

NM_006531.5

p.E442G

c.1325A>G

1 paper

NM_006531.5

p.K443_K444insFs

c.1329_1330insA

1 paper

NM_006531.5

p.E436delFs

c.1306_1307delGA

1 paper

NM_006531.5

p.K429_D430delFs

c.1287_1288delAG

1 paper

NM_006531.5

p.Q428insFs

c.1284dupA

1 paper

NM_006531.5

p.A414S

c.1240G>T

1 paper

NM_006531.5

p.V402_E403Fs

c.1205_1207delinsAFs

1 paper

NM_006531.5

p.G463R

c.1387G>A

1 paper

NM_006531.5

p.G463R

c.1387G>C