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_175605.5

p.I570Splc

c.1710-4T>G

Surrounding Variants

1 paper

NM_006531.5

p.Q570*

c.1708C>T

1 paper

NM_006531.5

p.P586H

c.1757C>A

1 paper

NM_006531.5

p.L592_L595del4

c.1774_1784del12

1 paper

NM_006531.5

p.G627*

c.1879G>T

1 paper

NM_175605.5

p.A568T

c.1702G>A

1 paper

NM_006531.5

p.E553K

c.1657G>A

1 paper

NM_006531.5

p.G463R

c.1387G>A

1 paper

NM_006531.5

p.G463R

c.1387G>C