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.T127I

c.380C>T

Surrounding Variants

1 paper

NM_031885.5

p.L128S

c.383T>C

3 papers

NM_031885.5

p.L125R

c.374T>G

1 paper

NM_031885.5

p.I123_V124ins1

c.369_370insGAT

19 papers

NM_031885.5

p.I123V

c.367A>G

1 paper

NM_031885.5

p.A122delFs

c.365delG

1 paper

NM_031885.5

p.A122V

c.365C>T

1 paper

NM_031885.5

p.A122T

c.364G>A

1 paper

NM_031885.5

p.P134L

c.401C>T

11 papers

NM_031885.5

p.P134R

c.401C>G

1 paper

NM_031885.5

p.L135F

c.403C>T

2 papers

NM_031885.5

p.P134delFs

c.402delA

1 paper

NM_031885.5

p.G119E

c.356G>A