Varaico: Literature-Extracted Genetic Variants

Gene:BBS10

BBS10

324 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 progressive retinal degeneration, obesity, polydactyly, ...

Pfam Domains

Cpn60_TCP1aa 21–109UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

Bardet-Biedl syndrome 10

HGNC Previous Symbol

C12orf58

Papers
RefSeq ID
Protein change
DNA change
1–12 of 484 variants
68 papers
NM_024685.4
p.C91insFs
c.271dupT
50 papers
NM_024685.4
p.C91fs
c.271_272fs
26 papers
NM_024685.4
p.R49W
c.145C>T
21 papers
NM_024685.4
p.C91W
c.273C>G
19 papers
NM_024685.4
p.Y559*
c.1677C>A
17 papers
NM_024685.4
p.C91fs
c.271_272fs
16 papers
NM_024685.4
p.Y559*
c.1677C>G
14 papers
NM_024685.4
p.N364delFs
c.1091delT
13 papers
NM_024685.4
p.S311A
c.931T>G
13 papers
NM_024685.4
p.V707delFs
c.2119_2120delAC
12 papers
NM_024685.4
p.K243_D244delFs
c.728_731del4
10 papers
NM_024685.4
p.T79insFs
c.235dupA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."