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

9 papers

NM_033028.5

p.I354T

c.1061T>C

Surrounding Variants

1 paper

NM_033028.5

p.I354V

c.1060A>G

1 paper

NM_033028.5

p.E355Q

c.1063G>C

1 paper

NM_033028.5

p.L351R

c.1052T>G

1 paper

NM_001252678.2

p.R187G

c.559A>G

19 papers

NM_033028.5

p.A364E

c.1091C>A

NM_001252678.2

p.A192E

c.575C>A

1 paper

NM_033028.5

p.A364insFs

c.1092dupA

3 papers

NM_001252678.2

p.D196G

c.587A>G

NM_033028.5

p.D368G

c.1103A>G

5 papers

NM_033028.5

p.K369Splc

c.1106+2T>A

1 paper

NM_033028.5

p.K369Splc

c.1106+3A>G

1 paper

NM_033028.5

p.K369Splc

c.1107-45T>C

1 paper

NM_033028.5

p.V374L

c.1120G>T

1 paper

NM_033028.5

p.N375_L376delFs

c.1123_1126del4