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.R715Q

c.2144G>A

Surrounding Variants

1 paper

NM_031885.5

p.I713_M714delFs

c.2137_2140del4

1 paper

NM_031885.5

p.I707M

c.2121C>G

15 papers

NM_031885.5

p.R703*

c.2107C>T

1 paper

NM_031885.5

p.A697_R699del3

c.2089_2096del9

1 paper

NM_031885.5

p.K689delFs

c.2067delT

1 paper

NM_031885.5

p.K689fs

c.2065_2066fs

1 paper

NM_031885.5

p.G688R

c.2062G>C

1 paper

NM_031885.5

p.G688R

c.2062G>A

1 paper

NM_031885.5

p.V687Splc

c.2060-1G>T

2 papers

NM_031885.5

p.V687Splc

c.2059+1G>T

1 paper

NM_031885.5

p.V687Splc

c.2059+1G>C

1 paper

NM_031885.5

p.R686Q

c.2057G>A