Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.L221S

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.L221S
c.662T>C
Surrounding Variants
1 paper
NM_024685.4
p.V225insFs
c.673_674insAA
1 paper
NM_024685.4
p.G227delins
c.680_681delinsAA
2 papers
NM_024685.4
p.V214A
c.641T>C
6 papers
NM_024685.4
p.V214E
c.641T>A
1 paper
NM_024685.4
p.P229L
c.686C>T
1 paper
NM_024685.4
p.V230fs
c.688_689fs
2 papers
NM_024685.4
p.P229delFs
c.687delA
2 papers
NM_024685.4
p.V230fs
c.688_689fs
1 paper
NM_024685.4
p.F211delFs
c.631_632delAA
1 paper
NM_024685.4
p.D232E
c.696T>G
1 paper
NM_024685.4
p.G209C
c.625G>T
1 paper
NM_024685.4
p.I235_I236insA
c.703_707ins3
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