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.L305L

c.915G>C

Surrounding Variants

1 paper

NM_006531.5

p.K306_A307delFs

c.917_920del4

1 paper

NM_006531.5

p.K306R

c.917A>G

1 paper

NM_006531.5

p.A307V

c.920C>T

1 paper

NM_006531.5

p.N304_L305del2

c.910_914del6

1 paper

NM_006531.5

p.M301_A302delFs

c.903_904delGG

1 paper

NM_175605.5

p.E305D

c.915G>C

1 paper

NM_175605.5

p.E305D

c.915G>T

1 paper

NM_006531.5

p.K323R

c.968A>G

1 paper

NM_006531.5

p.Q287E

c.859C>G

1 paper

NM_006531.5

p.K325R

c.974A>G

1 paper

NM_006531.5

p.K326R

c.977A>G

1 paper

NM_006531.5

p.K330R

c.989A>G