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.L62insFs

c.185_186insC

Surrounding Variants

1 paper

NM_031885.5

p.L62delFs

c.184delG

1 paper

NM_031885.5

p.L62fs

c.184_185fs

1 paper

NM_031885.5

p.L62fs

c.184_185fs

1 paper

NM_031885.5

p.S60fs

c.178_179fs

1 paper

NM_031885.5

p.Q59_S60insFs

c.177_178ins11

1 paper

NM_031885.5

p.S53_Q59del0

c.159_176del18

1 paper

NM_031885.5

p.D65V

c.194A>T

14 papers

NM_031885.5

p.Q59*

c.175C>T

1 paper

NM_031885.5

p.V57delFs

c.171delG

1 paper

NM_031885.5

p.V57G

c.170T>G

1 paper

NM_031885.5

p.S70G

c.208A>G

18 papers

NM_031885.5

p.S70N

c.209G>A