Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.S311A

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
13 papers
NM_024685.4
p.S311A
c.931T>G
Surrounding Variants
1 paper
NM_024685.4
p.I310insFs
c.930dupA
1 paper
NM_024685.4
p.S311P
c.931T>C
1 paper
NM_024685.4
p.S311F
c.932C>T
1 paper
NM_024685.4
p.S312G
c.934A>G
2 papers
NM_024685.4
p.I310_S311del2
c.928_932del6
2 papers
NM_024685.4
p.L309P
c.926T>C
1 paper
NM_024685.4
p.L309F
c.925C>T
5 papers
NM_024685.4
p.L308F
c.924G>T
5 papers
NM_024685.4
p.L308F
c.924G>C
1 paper
NM_024685.4
p.K314delFs
c.940delT
1 paper
NM_024685.4
p.S303_Q304del2
c.907_911del6
6 papers
NM_024685.4
p.S303_Q304delFs
c.909_912del4
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