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

10 papers

NM_144596.4

p.Q449H

c.1347G>T

NM_198309.3

p.Q439H

c.1317G>T

Surrounding Variants

10 papers

NM_144596.4

p.Q449H

c.1347G>C

NM_198309.3

p.Q439H

c.1317G>C

1 paper

NM_144596.4

p.G445insFs

c.1335dupC

1 paper

NM_144596.4

p.R443Q

c.1328G>A

2 papers

NM_144596.4

p.R443W

c.1327C>T

NM_001288782.1

p.R245W

c.733C>T

1 paper

NM_144596.4

p.Q449_A450Splc

c.1347+21A>G

1 paper

NM_144596.4

p.Y434S

c.1301A>C

1 paper

NM_144596.4

p.Y434C

c.1301A>G

1 paper

NM_144596.4

p.L422L

c.1264C>T

1 paper

NM_144596.4

p.C419G

c.1255T>G

2 papers

NM_144596.4

p.Q418R

c.1253A>G

1 paper

NM_198309.3

p.Q408*

c.1222C>T

1 paper

NM_144596.4

p.D412Y

c.1234G>T