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.T449A

c.1345A>G

Surrounding Variants

1 paper

NM_033028.5

p.Q448K

c.1342C>A

1 paper

NM_033028.5

p.S453_K454delFs

c.1358_1361del4

1 paper

NM_033028.5

p.K454N

c.1362A>C

1 paper

NM_033028.5

p.K454N

c.1362A>T

4 papers

NM_033028.5

p.S457I

c.1370G>T

1 paper

NM_033028.5

p.Q459delFs

c.1375_1376delCA

1 paper

NM_033028.5

p.Q459*

c.1375C>T

1 paper

NM_033028.5

p.Q459_Q460delFs

c.1377_1378delGC

2 papers

NM_033028.5

p.K438*

c.1312A>T

NM_001252678.2

p.K266*

c.796A>T

3 papers

NM_033028.5

p.T437_K438insFs

c.1311_1312insT

NM_001252678.2

p.T265_K266insFs

c.795_796insT

1 paper

NM_033028.5

p.T437fs

c.1309_1310fs

1 paper

NM_001320665.2

p.G440fs

c.1318_1319fs