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_198309.3

p.N355_L356ins13

c.1063_1067ins39

Surrounding Variants

1 paper

NM_198309.3

p.N355_L356ins16

c.1063_1067ins48

1 paper

NM_144596.4

p.G360S

c.1078G>A

1 paper

NM_144596.4

p.A373V

c.1118C>T

1 paper

NM_144596.4

p.M355_G356ins13

c.1063_1067ins39

5 papers

NM_144596.4

p.M355_G356ins16

c.1063_1067ins48

1 paper

NM_144596.4

p.M355V

c.1063A>G

1 paper

NM_144596.4

p.Q375P

c.1124A>C

1 paper

NM_144596.4

p.E384E

c.1152A>G

1 paper

NM_198310.3

p.E355_A356ins13

c.1063_1067ins39

1 paper

NM_198310.3

p.E355_A356ins16

c.1063_1067ins48

2 papers

NM_144596.4

p.I410K

c.1229T>A

1 paper

NM_144596.4

p.D412Y

c.1234G>T