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

3 papers

NM_031885.5

p.R353insFs

c.1059dupT

Surrounding Variants

1 paper

NM_031885.5

p.N354K

c.1062C>G

1 paper

NM_031885.5

p.N354K

c.1062C>A

1 paper

NM_031885.5

p.Y355_E356ins13

c.1063_1067ins39

1 paper

NM_031885.5

p.E356K

c.1066G>A

1 paper

NM_031885.5

p.E357Q

c.1069G>C

1 paper

NM_031885.5

p.L350R

c.1049T>G

6 papers

NM_031885.5

p.L349W

c.1046T>G

1 paper

NM_031885.5

p.A359fs

c.1075_1076fs

1 paper

NM_031885.5

p.K345Q

c.1033A>C

13 papers

NM_031885.5

p.R339*

c.1015C>T

1 paper

NM_031885.5

p.Q335*

c.1003C>T

1 paper

NM_031885.5

p.D330N

c.988G>A