Varaico: Literature-Extracted Genetic Variants

TTC8

150 papers

RefSeq Summary

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learn...

Pfam Domains

TPR_8aa 218–246UCSCTetratricopeptide repeat

TPR_8aa 282–315UCSCTetratricopeptide repeat

TPR_16aa 391–454UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 8

HGNC Alias Symbols

BBS8; RP51

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144596.4

p.T134delFs

c.402delT

Surrounding Variants

2 papers

NM_144596.4

p.M135I

c.405G>A

2 papers

NM_144596.4

p.M135I

c.405G>C

2 papers

NM_144596.4

p.M135I

c.405G>T

1 paper

NM_144596.4

p.A138G

c.413C>G

1 paper

NM_198309.3

p.S119insFs

c.355_356ins13

2 papers

NM_001288781.1

p.S119insFs

c.355_356ins16

1 paper

NM_144596.4

p.Q128*

c.382C>T

1 paper

NM_144596.4

p.G121D

c.362G>A

1 paper

NM_144596.4

p.T120A

c.358A>G

1 paper

NM_144596.4

p.R149C

c.445C>T

1 paper

NM_144596.4

p.I119insFs

c.355_356ins13

5 papers

NM_144596.4

p.I119insFs

c.355_356ins16