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.E387K

c.1159G>A

Surrounding Variants

1 paper

NM_033028.5

p.E387*

c.1159G>T

1 paper

NM_033028.5

p.N390delFs

c.1170delC

1 paper

NM_033028.5

p.N384_E387del4

c.1150_1160del12

1 paper

NM_033028.5

p.A391G

c.1172C>G

1 paper

NM_033028.5

p.L381delFs

c.1141_1142delCT

2 papers

NM_033028.5

p.Q394*

c.1180C>T

1 paper

NM_001252678.2

p.A207G

c.620C>G

1 paper

NM_033028.5

p.A379T

c.1135G>A

1 paper

NM_033028.5

p.Y378C

c.1133A>G

1 paper

NM_033028.5

p.N377_Y378delFs

c.1130_1134del5

1 paper

NM_001320665.2

p.M375_E376delFs

c.1123_1126del4

1 paper

NM_033028.5

p.N375H

c.1123A>C