Varaico: Literature-Extracted Genetic Variants

BBS9

293 papers

RefSeq Summary

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet bee...

Pfam Domains

PHTB1_Naa 1–363UCSCPTHB1 N-terminal

PTHB1_GAEaa 435–527UCSCPTHB1 GAE domain

PTHB1_pfaa 530–638UCSCPTHB1 platform domain

PTHB1_hpaa 639–742UCSCPTHB1 hairpin

PTHB1_CtHaa 744–819UCSCPTHB1 C-terminal helix bundle

Gene Aliases

HGNC Name

Bardet-Biedl syndrome 9

HGNC Alias Symbols

B1; PTHB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_198428.3

p.G141R

c.421G>C

Surrounding Variants

7 papers

NM_198428.3

p.G141R

c.421G>A

1 paper

NM_198428.3

p.G141A

c.422G>C

1 paper

NM_198428.3

p.N137H

c.409A>C

1 paper

NM_198428.3

p.T134R

c.401C>G

1 paper

NM_198428.3

p.T134fs

c.400_401fs

3 papers

NM_198428.3

p.G148Splc

c.442+1G>C

1 paper

NM_198428.3

p.T134delFs

c.400delA

6 papers

NM_198428.3

p.Q132H

c.396G>C

4 papers

NM_198428.3

p.Q132H

c.396G>T

1 paper

NM_198428.3

p.Q132E

c.394C>G

1 paper

NM_198428.3

p.Q132*

c.394C>T

1 paper

NM_198428.3

p.L131delFs

c.391delC