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.V318D

c.953T>A

Surrounding Variants

1 paper

NM_144596.4

p.V318I

c.952G>A

1 paper

NM_144596.4

p.Q321R

c.962A>G

2 papers

NM_144596.4

p.S309_S310insTA

c.925_929ins6

1 paper

NM_144596.4

p.M308insFs

c.923_924ins4

1 paper

NM_144596.4

p.M308_S309insTA

c.922_926ins6

1 paper

NM_198309.3

p.N297D

c.889A>G

1 paper

NM_144596.4

p.M305delFs

c.915delG

1 paper

NM_144596.4

p.M305fs

c.913_914fs

1 paper

NM_144596.4

p.G333E

c.998G>A

2 papers

NM_144596.4

p.S334delFs

c.1000delA

1 paper

NM_144596.4

p.E303_E304Splc

c.910-8G>T

3 papers

NM_144596.4

p.F337L

c.1009T>C