Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.N668S

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.N668S
c.2003A>G
Surrounding Variants
1 paper
NM_024685.4
p.N668K
c.2004T>G
1 paper
NM_024685.4
p.N668K
c.2004T>A
1 paper
NM_024685.4
p.S673_S674insAA
c.2017_2021ins6
1 paper
NM_024685.4
p.Q675insFs
c.2024dupA
3 papers
NM_024685.4
p.G677V
c.2030G>T
1 paper
NM_024685.4
p.I659L
c.1975A>T
1 paper
NM_024685.4
p.I659V
c.1975A>G
1 paper
NM_024685.4
p.I659L
c.1975A>C
4 papers
NM_024685.4
p.Y658*
c.1974T>G
2 papers
NM_024685.4
p.Y658*
c.1974T>A
1 paper
NM_024685.4
p.Y658F
c.1973A>T
1 paper
NM_024685.4
p.Y658C
c.1973A>G
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