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_001288781.1

p.W41*

c.123G>A

Surrounding Variants

1 paper

NM_001288781.1

p.W41*

c.122G>A

1 paper

NM_198309.3

p.L43S

c.128T>C

1 paper

NM_144596.4

p.A49V

c.146C>T

1 paper

NM_144596.4

p.D65G

c.194A>G

1 paper

NM_144596.4

p.E76K

c.226G>A

1 paper

NM_001288781.1

p.Q76*

c.226C>T

1 paper

NM_144596.4

p.P88A

c.262C>G

1 paper

NM_144596.4

p.P88L

c.263C>T

1 paper

NM_144596.4

p.R89Splc

c.265+1G>A

1 paper

NM_144596.4

p.G91insFs

c.271dupG

1 paper

NM_144596.4

p.T92M

c.275C>T

2 papers

NM_144596.4

p.K95R

c.284A>G