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.C51insFs

c.152_153insC

Surrounding Variants

1 paper

NM_033028.5

p.E49E

c.147A>G

9 papers

NM_033028.5

p.K46R

c.137A>G

1 paper

NM_033028.5

p.R45Q

c.134G>A

1 paper

NM_033028.5

p.Y43C

c.128A>G

1 paper

NM_033028.5

p.H42Q

c.126T>A

1 paper

NM_033028.5

p.H42R

c.125A>G

1 paper

NM_033028.5

p.W37*

c.111G>A

1 paper

NM_033028.5

p.L38delFs

c.112_113delTT

1 paper

NM_033028.5

p.W37*

c.110G>A

1 paper

NM_033028.5

p.E33insFs

c.98_99insG

1 paper

NM_033028.5

p.I31V

c.91A>G

1 paper

NM_033028.5

p.P30del1

c.88_89delCCT