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

2 papers

NM_001288781.1

p.T153_A154Splc

c.459+1G>A

Surrounding Variants

7 papers

NM_144596.4

p.T163T

c.489G>A

NM_198309.3

p.T153T

c.459G>A

1 paper

NM_144596.4

p.G162fs

c.484_485fs

2 papers

NM_144596.4

p.G162delFs

c.485delG

1 paper

NM_144596.4

p.R160K

c.479G>A

1 paper

NM_144596.4

p.S155fs

c.463_464fs

1 paper

NM_144596.4

p.S154S

c.462C>G

1 paper

NM_144596.4

p.S154_S155delFs

c.462_465del4

1 paper

NM_144596.4

p.R149C

c.445C>T

1 paper

NM_144596.4

p.A138G

c.413C>G

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