Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Y248*

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.Y248*
c.744C>G
Surrounding Variants
1 paper
NM_024685.4
p.D244_F245delFs
c.732_733delAA
1 paper
NM_024685.4
p.F245V
c.733T>G
1 paper
NM_024685.4
p.K243_D244del2
c.727_731del6
12 papers
NM_024685.4
p.K243_D244delFs
c.728_731del4
2 papers
NM_024685.4
p.K243fs
c.727_728fs
10 papers
NM_024685.4
p.K243fs
c.727_728fs
2 papers
NM_024685.4
p.Q242fs
c.724_725fs
1 paper
NM_024685.4
p.M255V
c.763A>G
2 papers
NM_024685.4
p.Q242delFs
c.724delG
4 papers
NM_024685.4
p.M255I
c.765G>T
4 papers
NM_024685.4
p.M255I
c.765G>C
4 papers
NM_024685.4
p.M255I
c.765G>A
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