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

2 papers

NM_033028.5

p.I172fs

c.514_515fs

Surrounding Variants

1 paper

NM_033028.5

p.I172V

c.514A>G

3 papers

NM_033028.5

p.Y171*

c.513T>A

3 papers

NM_033028.5

p.Y171*

c.513T>G

2 papers

NM_033028.5

p.Y171_I172insFs

c.513_514insA

1 paper

NM_033028.5

p.I172_M173delFs

c.516_517delAA

1 paper

NM_001252678.2

p.M1insFs

c.1_2insG

1 paper

NM_001252678.2

p.M1I

c.3G>T

7 papers

NM_033028.5

p.N165H

c.493A>C

1 paper

NM_001252678.2

p.L7L

c.19T>C

2 papers

NM_001252678.2

p.L7W

c.20T>G

NM_033028.5

p.L179W

c.536T>G

1 paper

NM_033028.5

p.L162delFs

c.485_486delTG

1 paper

NM_033028.5

p.L162del1

c.484_486delCTG