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.A414_F418del5

c.1240_1253del15

Surrounding Variants

1 paper

NM_031885.5

p.E420G

c.1259A>G

2 papers

NM_031885.5

p.A419T

c.1255G>A

1 paper

NM_031885.5

p.F418delFs

c.1254delA

1 paper

NM_031885.5

p.G425D

c.1274G>A

1 paper

NM_031885.5

p.F423_G425delFs

c.1269_1273del5

1 paper

NM_031885.5

p.E426E

c.1278A>G

21 papers

NM_031885.5

p.R413*

c.1237C>T

1 paper

NM_031885.5

p.V429L

c.1285G>T

1 paper

NM_031885.5

p.V429fs

c.1285_1286fs

1 paper

NM_031885.5

p.V429V

c.1287G>A

1 paper

NM_031885.5

p.I411V

c.1231A>G

1 paper

NM_031885.5

p.V430insFs

c.1288_1289insTA