Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.P581L

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.P581L
c.1742C>T
Surrounding Variants
5 papers
NM_024685.4
p.K579R
c.1736A>G
3 papers
NM_024685.4
p.Y589*
c.1767C>G
3 papers
NM_024685.4
p.Y589*
c.1767C>A
1 paper
NM_024685.4
p.M594V
c.1780A>G
1 paper
NM_024685.4
p.T568delFs
c.1702delT
1 paper
NM_024685.4
p.T568fs
c.1702_1703fs
1 paper
NM_024685.4
p.I567T
c.1700T>C
2 papers
NM_024685.4
p.G597D
c.1790G>A
1 paper
NM_024685.4
p.Y559_N561del3
c.1675_1682del9
1 paper
NM_024685.4
p.P601L
c.1802C>T
2 papers
NM_024685.4
p.V602L
c.1804G>T
2 papers
NM_024685.4
p.V602L
c.1804G>C
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