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.A387A

c.1161T>C

Surrounding Variants

2 papers

NM_006531.5

p.M374I

c.1122G>A

NM_175605.5

p.M383I

c.1149G>A

1 paper

NM_175605.5

p.M383I

c.1149G>C

1 paper

NM_175605.5

p.M383I

c.1149G>T

1 paper

NM_175605.5

p.M383K

c.1148T>A

1 paper

NM_006531.5

p.K372_A375delFs

c.1115_1125del11

1 paper

NM_006531.5

p.V402_E403Fs

c.1205_1207delinsAFs

1 paper

NM_006531.5

p.A414S

c.1240G>T

1 paper

NM_006531.5

p.Q428insFs

c.1284dupA

1 paper

NM_006531.5

p.K429_D430delFs

c.1287_1288delAG