Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.F153L

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
1 paper
NM_024685.4
p.F153L
c.457T>C
Surrounding Variants
1 paper
NM_024685.4
p.H152Q
c.456C>G
1 paper
NM_024685.4
p.H152Q
c.456C>A
1 paper
NM_024685.4
p.F153fs
c.457_458fs
1 paper
NM_024685.4
p.F153L
c.459T>G
1 paper
NM_024685.4
p.F153L
c.459T>A
1 paper
NM_024685.4
p.F153Fs
c.458_459delinsCFs
1 paper
NM_024685.4
p.R151*
c.451A>T
1 paper
NM_024685.4
p.S150R
c.450T>G
1 paper
NM_024685.4
p.S150R
c.450T>A
1 paper
NM_024685.4
p.S150R
c.448A>C
4 papers
NM_024685.4
p.L149insFs
c.445_446insC
1 paper
NM_024685.4
p.L149fs
c.445_446fs
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