Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.A18insFs

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.A18insFs
c.54dupC
Surrounding Variants
2 papers
NM_024685.4
p.E19*
c.55G>T
1 paper
NM_024685.4
p.E19Q
c.55G>C
1 paper
NM_024685.4
p.V17M
c.49G>A
1 paper
NM_024685.4
p.L21Q
c.62T>A
1 paper
NM_024685.4
p.A13_Q16delFs
c.39_46del8
1 paper
NM_024685.4
p.E22Q
c.64G>C
1 paper
NM_024685.4
p.A14fs
c.40_41fs
2 papers
NM_024685.4
p.A13fs
c.37_38fs
1 paper
NM_024685.4
p.V11V
c.33G>A
4 papers
NM_024685.4
p.V11G
c.32T>G
1 paper
NM_024685.4
p.S10F
c.29C>T
1 paper
NM_024685.4
p.C27insFs
c.80dupG
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