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.T37delFs

c.110delG

Surrounding Variants

1 paper

NM_031885.5

p.T37fs

c.109_110fs

1 paper

NM_031885.5

p.G38ins3

c.113_114ins9

1 paper

NM_031885.5

p.K39R

c.116A>G

3 papers

NM_031885.5

p.K39K

c.117G>A

1 paper

NM_031885.5

p.T35T

c.105C>A

1 paper

NM_031885.5

p.K39_V40Splc

c.117+1G>T

1 paper

NM_031885.5

p.A34G

c.101C>G

1 paper

NM_031885.5

p.A33_A34insFs

c.99_100insT

3 papers

NM_031885.5

p.A33D

c.98C>A

1 paper

NM_031885.5

p.L31L

c.91C>T

1 paper

NM_031885.5

p.T27_C30del0

c.79_90del12

1 paper

NM_031885.5

p.C30Y

c.89G>A