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

1 paper

NM_033028.5

p.L344_A345delFs

c.1032_1033delGG

Surrounding Variants

1 paper

NM_033028.5

p.L343I

c.1027C>A

1 paper

NM_001320665.2

p.L320V

c.958C>G

1 paper

NM_001320665.2

p.G315_E316delFs

c.943_946del4

1 paper

NM_033028.5

p.P335Q

c.1004C>A

1 paper

NM_033028.5

p.Q334_G338del5

c.1000_1013del15

5 papers

NM_033028.5

p.L327P

c.980T>C

1 paper

NM_001320665.2

p.H302H

c.906T>C

1 paper

NM_033028.5

p.A323A

c.969T>A

1 paper

NM_033028.5

p.A323V

c.968C>T

1 paper

NM_001252678.2

p.A151P

c.451G>C

1 paper

NM_033028.5

p.L315_T316delFs

c.943_946del4

1 paper

NM_033028.5

p.G311D

c.932G>A