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

Selected Variant

4 papers

NM_033028.5

p.A74Splc

c.220+1G>C

Surrounding Variants

1 paper

NM_033028.5

p.A74T

c.220G>A

1 paper

NM_033028.5

p.Q73delFs

c.217delC

2 papers

NM_033028.5

p.I70V

c.208A>G

1 paper

NM_033028.5

p.I70_Y71delFs

c.210_213del4

1 paper

NM_033028.5

p.Q63*

c.187C>T

1 paper

NM_033028.5

p.T62T

c.186T>A

2 papers

NM_033028.5

p.E61K

c.181G>A

2 papers

NM_033028.5

p.Q58*

c.172C>T

5 papers

NM_033028.5

p.A53fs

c.157_158fs

9 papers

NM_033028.5

p.K52_A53Splc

c.157-2A>G

4 papers

NM_033028.5

p.K52_A53Splc

c.157-3C>G

1 paper

NM_033028.5

p.C51insFs

c.152_153insC