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.Y113*

c.339C>G

Surrounding Variants

1 paper

NM_031885.5

p.Y113*

c.339C>A

1 paper

NM_031885.5

p.Y113_R114ins9

c.337_341ins27

2 papers

NM_031885.5

p.F112L

c.336C>G

2 papers

NM_031885.5

p.F112L

c.336C>A

1 paper

NM_031885.5

p.Y106_L111del6

c.316_332del18

3 papers

NM_031885.5

p.F112L

c.334T>C

2 papers

NM_031885.5

p.E115_V116Splc

c.345+1G>A

3 papers

NM_031885.5

p.E115_V116Splc

c.345+5G>A

1 paper

NM_031885.5

p.S109L

c.326C>T

2 papers

NM_031885.5

p.D104G

c.311A>G

16 papers

NM_031885.5

p.D104A

c.311A>C

1 paper

NM_031885.5

p.N99_L100insT

c.295_299ins3