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.E416_M417Splc

c.1248+1G>T

Surrounding Variants

2 papers

NM_033028.5

p.E416D

c.1248G>C

2 papers

NM_033028.5

p.E416D

c.1248G>T

6 papers

NM_033028.5

p.E412D

c.1236A>C

6 papers

NM_033028.5

p.E412D

c.1236A>T

1 paper

NM_033028.5

p.S409delFs

c.1226delG

2 papers

NM_033028.5

p.S409fs

c.1225_1226fs

1 paper

NM_033028.5

p.K406delFs

c.1216_1217delAA

1 paper

NM_033028.5

p.K401*

c.1201A>T

1 paper

NM_001320665.2

p.M375_E376delFs

c.1123_1126del4

1 paper

NM_033028.5

p.E416_M417Splc

c.1248+65C>T

2 papers

NM_033028.5

p.Q394*

c.1180C>T

1 paper

NM_033028.5

p.A391G

c.1172C>G