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.F217C

c.650T>G

Surrounding Variants

1 paper

NM_031885.5

p.R216P

c.647G>C

3 papers

NM_031885.5

p.G218D

c.653G>A

7 papers

NM_031885.5

p.R216*

c.646C>T

1 paper

NM_031885.5

p.G214_Y219Fs

c.642_656delinsCFs

2 papers

NM_031885.5

p.L221fs

c.661_662fs

2 papers

NM_031885.5

p.L221P

c.662T>C

2 papers

NM_031885.5

p.L221delFs

c.661delG

1 paper

NM_031885.5

p.M212insFs

c.635_636insGC

1 paper

NM_031885.5

p.M212T

c.635T>C

1 paper

NM_031885.5

p.M212L

c.634A>C

1 paper

NM_031885.5

p.N223S

c.668A>G

5 papers

NM_031885.5

p.L209_C210delFs

c.627_628delAA