Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.M109fs

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
2 papers
NM_024685.4
p.M109fs
c.325_326fs
Surrounding Variants
1 paper
NM_024685.4
p.M109T
c.326T>C
1 paper
NM_024685.4
p.C110R
c.328T>C
1 paper
NM_024685.4
p.M109_C110delFs
c.325_328del4
1 paper
NM_024685.4
p.P107S
c.319C>T
1 paper
NM_024685.4
p.D106N
c.316G>A
1 paper
NM_024685.4
p.D106_E111del6
c.316_332del18
1 paper
NM_024685.4
p.I113V
c.337A>G
2 papers
NM_024685.4
p.E104delFs
c.310_311delTC
2 papers
NM_024685.4
p.E104fs
c.310_311fs
1 paper
NM_024685.4
p.T115I
c.344C>T
1 paper
NM_024685.4
p.Q114insFs
c.341_342insA
1 paper
NM_024685.4
p.T101_D102delFs
c.303_304delCT
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