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

7 papers

NM_033028.5

p.R295P

c.884G>C

Surrounding Variants

2 papers

NM_033028.5

p.R295Q

c.884G>A

1 paper

NM_033028.5

p.R295G

c.883C>G

7 papers

NM_033028.5

p.R295*

c.883C>T

1 paper

NM_033028.5

p.N297D

c.889A>G

1 paper

NM_033028.5

p.F302L

c.904T>C

1 paper

NM_033028.5

p.F302_D303delFs

c.906_907delTG

6 papers

NM_033028.5

p.F302F

c.906T>C

NM_001320665.2

p.F279F

c.837T>C

NM_001252678.2

p.F130F

c.390T>C

1 paper

NM_033028.5

p.N309_T316del8

c.925_947del24

1 paper

NM_033028.5

p.N309T

c.926A>C

1 paper

NM_033028.5

p.N309S

c.926A>G

5 papers

NM_033028.5

p.N309K

c.927T>A

5 papers

NM_033028.5

p.N309K

c.927T>G