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.R686Q

c.2057G>A

Surrounding Variants

2 papers

NM_031885.5

p.V687Splc

c.2059+1G>T

1 paper

NM_031885.5

p.V687Splc

c.2059+1G>C

2 papers

NM_031885.5

p.R684H

c.2051G>A

1 paper

NM_031885.5

p.Q677*

c.2029C>T

1 paper

NM_031885.5

p.K673_A674insAA

c.2017_2021ins6

1 paper

NM_031885.5

p.L672H

c.2015T>A

1 paper

NM_031885.5

p.L672F

c.2014C>T

1 paper

NM_031885.5

p.N671S

c.2012A>G

1 paper

NM_031885.5

p.T666insFs

c.1996_1997insAG

1 paper

NM_031885.5

p.N664delFs

c.1992delA

1 paper

NM_031885.5

p.H665fs

c.1993_1994fs

1 paper

NM_031885.5

p.N664insFs

c.1990_1991insTA