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

16 papers

NM_031885.5

p.R189*

c.565C>T

Surrounding Variants

1 paper

NM_031885.5

p.I188fs

c.562_563fs

8 papers

NM_031885.5

p.I188delFs

c.563delA

1 paper

NM_031885.5

p.V190I

c.568G>A

6 papers

NM_031885.5

p.I188fs

c.562_563fs

1 paper

NM_031885.5

p.D185_F186insC

c.553_557ins3

1 paper

NM_031885.5

p.E184G

c.551A>G

1 paper

NM_031885.5

p.A198T

c.592G>A

1 paper

NM_031885.5

p.L179F

c.535C>T

2 papers

NM_031885.5

p.E178_L179Splc

c.535-1G>C

2 papers

NM_031885.5

p.E178_L179Splc

c.535-2A>G

1 paper

NM_031885.5

p.E202K

c.604G>A

1 paper

NM_031885.5

p.E202G

c.605A>G