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

1–12 of 466 variants

26 papers

NM_031885.5

p.E178_L179Splc

c.534+1G>T

25 papers

NM_031885.5

p.Y24*

c.72C>G

25 papers

NM_031885.5

p.Y24*

c.72C>A

25 papers

NM_031885.5

p.R275*

c.823C>T

21 papers

NM_031885.5

p.R413*

c.1237C>T

21 papers

NM_031885.5

p.R632P

c.1895G>C

19 papers

NM_031885.5

p.I123V

c.367A>G

18 papers

NM_031885.5

p.S70N

c.209G>A

16 papers

NM_031885.5

p.D104A

c.311A>C

16 papers

NM_031885.5

p.R189*

c.565C>T

15 papers

NM_031885.5

p.R234*

c.700C>T

15 papers

NM_031885.5

p.R703*

c.2107C>T