Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.V707insFs

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
Selected Variant
3 papers
NM_024685.4
p.V707insFs
c.2121dupT
Surrounding Variants
3 papers
NM_024685.4
p.K708*
c.2122A>T
5 papers
NM_024685.4
p.V707fs
c.2119_2120fs
13 papers
NM_024685.4
p.V707delFs
c.2119_2120delAC
1 paper
NM_024685.4
p.K708N
c.2124G>T
1 paper
NM_024685.4
p.K708N
c.2124G>C
1 paper
NM_024685.4
p.V707fs
c.2119_2120fs
3 papers
NM_024685.4
p.R709*
c.2125A>T
3 papers
NM_024685.4
p.K713fs
c.2137_2138fs
5 papers
NM_024685.4
p.K713_V714delFs
c.2137_2140del4
3 papers
NM_024685.4
p.H715R
c.2144A>G
1 paper
NM_024685.4
p.K697_L699del3
c.2089_2096del9
1 paper
NM_024685.4
p.I698R
c.2093T>G
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