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.G735E

c.2204G>A

Surrounding Variants

1 paper

NM_006531.5

p.D732H

c.2194G>C

1 paper

NM_006531.5

p.E742*

c.2224G>T

1 paper

NM_006531.5

p.K728delFs

c.2182delA

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.R696H

c.2087G>A