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

15 papers

NM_031885.5

p.R234*

c.700C>T

Surrounding Variants

1 paper

NM_031885.5

p.T232I

c.695C>T

1 paper

NM_031885.5

p.W236_R237insG

c.706_710ins3

1 paper

NM_031885.5

p.W236*

c.707G>A

1 paper

NM_031885.5

p.W236*

c.708G>A

1 paper

NM_031885.5

p.K231E

c.691A>G

2 papers

NM_031885.5

p.Y229H

c.685T>C

1 paper

NM_031885.5

p.V228D

c.683T>A

1 paper

NM_031885.5

p.K239_S240Splc

c.717+1G>T

1 paper

NM_031885.5

p.K239_S240Splc

c.717+1G>A

1 paper

NM_031885.5

p.T225insFs

c.673_674insAA

1 paper

NM_031885.5

p.N223S

c.668A>G

2 papers

NM_031885.5

p.L221P

c.662T>C