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

1 paper

NM_031885.5

p.N284I

c.851A>T

Surrounding Variants

2 papers

NM_031885.5

p.N284delFs

c.851delT

3 papers

NM_031885.5

p.I289V

c.865A>G

4 papers

NM_031885.5

p.G291S

c.871G>A

2 papers

NM_031885.5

p.V292M

c.874G>A

1 paper

NM_031885.5

p.R275fs

c.823_824fs

25 papers

NM_031885.5

p.R275*

c.823C>T

1 paper

NM_031885.5

p.E294V

c.881A>T

2 papers

NM_031885.5

p.R272Q

c.815G>A

9 papers

NM_031885.5

p.R272*

c.814C>T

1 paper

NM_031885.5

p.A271_R272insT

c.811_815ins3

1 paper

NM_031885.5

p.R298W

c.892C>T

1 paper

NM_031885.5

p.V269G

c.806T>G