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.S611G

c.1831A>G

Surrounding Variants

1 paper

NM_031885.5

p.M614T

c.1841T>C

7 papers

NM_031885.5

p.S605*

c.1814C>G

6 papers

NM_031885.5

p.S605*

c.1814C>A

1 paper

NM_031885.5

p.N619S

c.1856A>G

1 paper

NM_031885.5

p.D613_N619del7

c.1837_1856del21

1 paper

NM_031885.5

p.E602Q

c.1804G>C

1 paper

NM_031885.5

p.I621M

c.1863C>G

6 papers

NM_031885.5

p.R622*

c.1864C>T

2 papers

NM_031885.5

p.E629K

c.1885G>A

3 papers

NM_031885.5

p.G627_A628del2

c.1879_1883del6

1 paper

NM_031885.5

p.A631T

c.1891G>A

21 papers

NM_031885.5

p.R632P

c.1895G>C