Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.E262_Q265insFs

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.E262_Q265insFs
c.784_793dup10
Surrounding Variants
2 papers
NM_024685.4
p.T261_T263del3
c.781_788del9
1 paper
NM_024685.4
p.P266delins
c.797_798delinsTT
1 paper
NM_024685.4
p.P266Fs
c.798delinsTTFs
1 paper
NM_024685.4
p.E262delFs
c.784_785delTC
2 papers
NM_024685.4
p.E262fs
c.784_785fs
1 paper
NM_024685.4
p.S269insFs
c.805dupT
8 papers
NM_024685.4
p.S271_G272insT
c.811_815ins3
2 papers
NM_024685.4
p.G272_S273insT
c.814_818ins3
1 paper
NM_024685.4
p.G272A
c.815G>C
1 paper
NM_024685.4
p.S271_G272del2
c.811_815del6
1 paper
NM_024685.4
p.E274fs
c.820_821fs
1 paper
NM_024685.4
p.R256*
c.766C>T
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