Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.S286P

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.S286P
c.856T>C
Surrounding Variants
1 paper
NM_024685.4
p.Q287fs
c.859_860fs
1 paper
NM_024685.4
p.S286_Q287insFs
c.858_859dupTC
1 paper
NM_024685.4
p.Q284*
c.850C>T
1 paper
NM_024685.4
p.F288C
c.863T>G
1 paper
NM_024685.4
p.K293T
c.878A>C
5 papers
NM_024685.4
p.A296T
c.886G>A
2 papers
NM_024685.4
p.F275fs
c.823_824fs
1 paper
NM_024685.4
p.E274delFs
c.821_822delCT
1 paper
NM_024685.4
p.I297T
c.890T>C
2 papers
NM_024685.4
p.M298fs
c.892_893fs
1 paper
NM_024685.4
p.E274fs
c.820_821fs
1 paper
NM_024685.4
p.S271_G272del2
c.811_815del6
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