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_144596.4

p.K95R

c.284A>G

Surrounding Variants

1 paper

NM_144596.4

p.T92M

c.275C>T

1 paper

NM_144596.4

p.G91insFs

c.271dupG

2 papers

NM_198309.3

p.N90S

c.269A>G

1 paper

NM_144596.4

p.G103_G104insFs

c.309_310insTA

1 paper

NM_144596.4

p.G103insFs

c.308_309insTA

1 paper

NM_144596.4

p.G103_G104insFs

c.309_310insAT

1 paper

NM_144596.4

p.Q107*

c.319C>T

1 paper

NM_144596.4

p.Q107L

c.320A>T

2 papers

NM_144596.4

p.A108T

c.322G>A

NM_198309.3

p.A98T

c.292G>A

2 papers

NM_144596.4

p.R110Splc

c.329+1G>A

1 paper

NM_144596.4

p.P111P

c.333A>G

1 paper

NM_001288781.1

p.T103fs

c.307_308fs