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.E323G

c.968A>G

Surrounding Variants

1 paper

NM_031885.5

p.E323V

c.968A>T

1 paper

NM_031885.5

p.R325K

c.974G>A

1 paper

NM_031885.5

p.R325R

c.975G>A

1 paper

NM_031885.5

p.G320S

c.958G>A

2 papers

NM_031885.5

p.M329T

c.986T>C

3 papers

NM_031885.5

p.Y317C

c.950A>G

1 paper

NM_031885.5

p.D330N

c.988G>A

1 paper

NM_031885.5

p.G316D

c.947G>A

8 papers

NM_031885.5

p.R315Q

c.944G>A

11 papers

NM_031885.5

p.R315W

c.943C>T

1 paper

NM_031885.5

p.Q335*

c.1003C>T

13 papers

NM_031885.5

p.R339*

c.1015C>T