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.N266delins

c.797_798delinsTT

Surrounding Variants

1 paper

NM_031885.5

p.N266Fs

c.798delinsTTFs

1 paper

NM_031885.5

p.L260_I261ins0

c.780_782dupGAT

1 paper

NM_031885.5

p.L260P

c.779T>C

1 paper

NM_031885.5

p.V257M

c.769G>A

1 paper

NM_031885.5

p.S254P

c.760T>C

1 paper

NM_031885.5

p.M245_H248del0

c.735_743del9

1 paper

NM_031885.5

p.A244_M245delFs

c.732_733delTG

1 paper

NM_031885.5

p.M245L

c.733A>T

1 paper

NM_031885.5

p.H243ins1

c.727_728insCTC

1 paper

NM_031885.5

p.S240P

c.718T>C

2 papers

NM_031885.5

p.K239_S240Splc

c.718-1G>T

1 paper

NM_031885.5

p.K239_S240Splc

c.718-34G>A