Varaico: Literature-Extracted Genetic Variants

Gene:TTC8

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
1–12 of 198 variants
12 papers
NM_144596.4
p.Q38_E39Splc
c.115-2A>G
9 papers
NM_144596.4
p.Q449H
c.1347G>C
9 papers
NM_144596.4
p.Q449H
c.1347G>T
5 papers
NM_144596.4
p.I119insFs
c.355_356ins16
5 papers
NM_144596.4
p.T163T
c.489G>A
5 papers
NM_144596.4
p.M355_G356ins16
c.1063_1067ins48
4 papers
NM_144596.4
p.F337L
c.1011C>G
3 papers
NM_144596.4
p.F337L
c.1009T>C
3 papers
NM_144596.4
p.F337L
c.1011C>A
2 papers
NM_144596.4
p.M1T
c.2T>C
2 papers
NM_144596.4
p.F15_R16insFs
c.45_46insA
2 papers
NM_144596.4
p.C23delFs
c.69delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."