Varaico: Literature-Extracted Genetic Variants

BBS4

253 papers

RefSeq Summary

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, ren...

Pfam Domains

TPR_11aa 108–146UCSCTPR repeat

TPR_11aa 175–216UCSCTPR repeat

TPR_8aa 270–303UCSCTetratricopeptide repeat

TPR_8aa 305–337UCSCTetratricopeptide repeat

TPR_16aa 342–403UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

Bardet-Biedl syndrome 4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 286 variants

18 papers

NM_033028.5

p.A364E

c.1091C>A

9 papers

NM_033028.5

p.K46R

c.137A>G

9 papers

NM_033028.5

p.K52_A53Splc

c.157-2A>G

9 papers

NM_033028.5

p.I354T

c.1061T>C

8 papers

NM_033028.5

p.M472V

c.1414A>G

7 papers

NM_033028.5

p.N165H

c.493A>C

7 papers

NM_033028.5

p.R295*

c.883C>T

7 papers

NM_033028.5

p.R295P

c.884G>C

6 papers

NM_033028.5

p.F302F

c.906T>C

6 papers

NM_033028.5

p.E412D

c.1236A>C

6 papers

NM_033028.5

p.E412D

c.1236A>T

5 papers

NM_033028.5

p.A53fs

c.157_158fs