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

25 papers

NM_031885.5

p.Y24*

c.72C>G

Surrounding Variants

1 paper

NM_031885.5

p.Y24Y

c.72C>T

25 papers

NM_031885.5

p.Y24*

c.72C>A

1 paper

NM_031885.5

p.R23R

c.69C>T

5 papers

NM_031885.5

p.R23P

c.68G>C

1 paper

NM_031885.5

p.R23G

c.67C>G

5 papers

NM_031885.5

p.T27P

c.79A>C

1 paper

NM_031885.5

p.H28_P29insFs

c.84_85insA

2 papers

NM_031885.5

p.P29fs

c.85_86fs

2 papers

NM_031885.5

p.H28delFs

c.84delG

1 paper

NM_031885.5

p.C30Y

c.89G>A

1 paper

NM_031885.5

p.M18I

c.54G>T

1 paper

NM_031885.5

p.M18I

c.54G>C