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.Y644*

c.1932T>A

Surrounding Variants

3 papers

NM_031885.5

p.Y644*

c.1932T>G

2 papers

NM_031885.5

p.M645T

c.1934T>C

4 papers

NM_031885.5

p.R643H

c.1928G>A

1 paper

NM_031885.5

p.Y648C

c.1943A>G

1 paper

NM_031885.5

p.G657*

c.1969G>T

1 paper

NM_031885.5

p.R661C

c.1981C>T

1 paper

NM_031885.5

p.C662R

c.1984T>C

1 paper

NM_031885.5

p.C662fs

c.1984_1985fs

1 paper

NM_031885.5

p.C662delFs

c.1984delA

1 paper

NM_031885.5

p.C662insFs

c.1986dupT

1 paper

NM_031885.5

p.N664insFs

c.1990_1991insTA

1 paper

NM_031885.5

p.N664delFs

c.1992delA