Varaico: Literature-Extracted Genetic Variants

BBS2

423 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

BBS2_Naa 20–126UCSCCiliary BBSome complex subunit 2, N-terminal

BBS2_Midaa 165–272UCSCCiliary BBSome complex subunit 2, middle region

BBS2_GAEaa 393–481UCSCBBS2 GAE domain

BBS2_pfaa 484–575UCSCBBS2 platform domain

BBS2_hpaa 587–684UCSCBBS2 hairpin

BBS2_CtHaa 689–715UCSCBBS2 C-terminal helix bundle

Gene Aliases

HGNC Name

Bardet-Biedl syndrome 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_031885.5

p.V94fs

c.280_281fs

Surrounding Variants

2 papers

NM_031885.5

p.E86_L93insFs

c.256_278dup23

1 paper

NM_031885.5

p.A91V

c.272C>T

1 paper

NM_031885.5

p.A91insFs

c.271dupG

1 paper

NM_031885.5

p.A91insFs

c.271_272insT

1 paper

NM_031885.5

p.T79_D90del12

c.235_269del36

1 paper

NM_031885.5

p.Q97*

c.289C>T

2 papers

NM_031885.5

p.Y89C

c.266A>G

1 paper

NM_031885.5

p.Y89S

c.266A>C

1 paper

NM_031885.5

p.N99_L100insT

c.295_299ins3

3 papers

NM_031885.5

p.G88delFs

c.263delC

2 papers

NM_031885.5

p.G88fs

c.262_263fs

1 paper

NM_031885.5

p.N84_P85insA

c.250_254ins3