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.S334delFs

c.1000delA

Surrounding Variants

1 paper

NM_144596.4

p.G333E

c.998G>A

3 papers

NM_144596.4

p.F337L

c.1009T>C

3 papers

NM_144596.4

p.F337L

c.1011C>A

4 papers

NM_144596.4

p.F337L

c.1011C>G

1 paper

NM_001288781.1

p.S355_D356ins16

c.1063_1067ins48

1 paper

NM_198309.3

p.I334delFs

c.1000delA

1 paper

NM_144596.4

p.Q321R

c.962A>G

1 paper

NM_144596.4

p.V318D

c.953T>A

1 paper

NM_144596.4

p.F348S

c.1043T>C

1 paper

NM_144596.4

p.V318I

c.952G>A

1 paper

NM_144596.4

p.Y349*

c.1047C>A

1 paper

NM_144596.4

p.Y349*

c.1047C>G