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.V429V

c.1287G>A

Surrounding Variants

1 paper

NM_031885.5

p.V430insFs

c.1288_1289insTA

1 paper

NM_031885.5

p.V429delFs

c.1286_1287delCA

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.H431fs

c.1291_1292fs

1 paper

NM_031885.5

p.V430insFs

c.1290dupA

1 paper

NM_031885.5

p.P432S

c.1294C>T

1 paper

NM_031885.5

p.E426E

c.1278A>G

1 paper

NM_031885.5

p.S433fs

c.1297_1298fs

1 paper

NM_031885.5

p.S433insFs

c.1297_1298insG

1 paper

NM_031885.5

p.G425D

c.1274G>A

1 paper

NM_031885.5

p.F423_G425delFs

c.1269_1273del5