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.M634T

c.1901T>C

Surrounding Variants

21 papers

NM_031885.5

p.R632P

c.1895G>C

1 paper

NM_031885.5

p.R632H

c.1895G>A

1 paper

NM_031885.5

p.D636D

c.1908C>T

2 papers

NM_031885.5

p.M637fs

c.1909_1910fs

1 paper

NM_031885.5

p.M637Splc

c.1910+1G>T

1 paper

NM_031885.5

p.A631T

c.1891G>A

3 papers

NM_031885.5

p.M637delFs

c.1909_1910delAT

3 papers

NM_031885.5

p.G627_A628del2

c.1879_1883del6

2 papers

NM_031885.5

p.E629K

c.1885G>A

6 papers

NM_031885.5

p.R622*

c.1864C>T

1 paper

NM_031885.5

p.I621M

c.1863C>G

1 paper

NM_031885.5

p.D613_N619del7

c.1837_1856del21