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.N148I

c.443A>T

Surrounding Variants

1 paper

NM_031885.5

p.G151R

c.451G>C

1 paper

NM_031885.5

p.G151R

c.451G>A

1 paper

NM_031885.5

p.G151E

c.452G>A

1 paper

NM_031885.5

p.L144L

c.430C>T

3 papers

NM_031885.5

p.N141S

c.422A>G

1 paper

NM_031885.5

p.L154_F155del1

c.461_463delAGA

1 paper

NM_031885.5

p.I138_G140delFs

c.414_418del5

5 papers

NM_031885.5

p.G139V

c.416G>T

1 paper

NM_031885.5

p.T157M

c.470C>T

2 papers

NM_031885.5

p.T157T

c.471G>T

1 paper

NM_031885.5

p.T157T

c.471G>C

1 paper

NM_031885.5

p.G139R

c.415G>C