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_001318491.2

p.V180F

c.538G>T

Surrounding Variants

1 paper

NM_006531.5

p.Y220*

c.660T>A

1 paper

NM_006531.5

p.Y220*

c.660T>G

1 paper

NM_006531.5

p.F229L

c.685T>C

1 paper

NM_006531.5

p.F229L

c.687T>A

1 paper

NM_006531.5

p.F229L

c.687T>G

1 paper

NM_006531.5

p.N248D

c.742A>G

1 paper

NM_175605.5

p.R266delFs

c.796delC

1 paper

NM_175605.5

p.R266*

c.796C>T

1 paper

NM_175605.5

p.R266fs

c.796_797fs

2 papers

NM_006531.5

p.R257Q

c.770G>A

3 papers

NM_006531.5

p.L260*

c.779T>A

3 papers

NM_006531.5

p.L260*

c.779T>G