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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_144596.4

p.M1K

c.2T>A

1 paper

NM_144596.4

p.M1V

c.1A>G

1 paper

NM_144596.4

p.M1_S2insFs

c.3_4insT

1 paper

NM_144596.4

p.S3_E4insFs

c.9_10dupGG

1 paper

NM_144596.4

p.E4fs

c.10_11fs

1 paper

NM_144596.4

p.L8Q

c.23T>A

1 paper

NM_144596.4

p.W12C

c.36G>C

1 paper

NM_144596.4

p.W12C

c.36G>T

2 papers

NM_144596.4

p.F15_R16insFs

c.45_46insA

1 paper

NM_144596.4

p.K19N

c.57G>C

1 paper

NM_144596.4

p.F20_L22del3

c.58_65del9

1 paper

NM_144596.4

p.L22F

c.64C>T