Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.S10F

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.S10F
c.29C>T
Surrounding Variants
4 papers
NM_024685.4
p.V11G
c.32T>G
1 paper
NM_024685.4
p.G9W
c.25G>T
1 paper
NM_024685.4
p.V11V
c.33G>A
2 papers
NM_024685.4
p.A13fs
c.37_38fs
1 paper
NM_024685.4
p.A14fs
c.40_41fs
1 paper
NM_024685.4
p.A6G
c.17C>G
2 papers
NM_024685.4
p.S3_M5del0
c.9_14del6
3 papers
NM_024685.4
p.S3_M5Fs
c.9_15delinsGCFs
1 paper
NM_024685.4
p.A13_Q16delFs
c.39_46del8
1 paper
NM_024685.4
p.S4P
c.10T>C
1 paper
NM_024685.4
p.V17M
c.49G>A
2 papers
NM_024685.4
p.S3fs
c.7_8fs
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