Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.V489L

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.V489L
c.1465G>T
Surrounding Variants
1 paper
NM_024685.4
p.V489L
c.1465G>C
4 papers
NM_024685.4
p.K488R
c.1463A>G
1 paper
NM_024685.4
p.S491Y
c.1472C>A
1 paper
NM_024685.4
p.Y486F
c.1457A>T
1 paper
NM_024685.4
p.Y486insFs
c.1456dupT
1 paper
NM_024685.4
p.Y486fs
c.1456_1457fs
2 papers
NM_024685.4
p.T483fs
c.1447_1448fs
1 paper
NM_024685.4
p.K482delFs
c.1444delT
1 paper
NM_024685.4
p.K477_T483delFs
c.1431_1447del17
1 paper
NM_024685.4
p.D497V
c.1490A>T
1 paper
NM_024685.4
p.A479E
c.1436C>A
2 papers
NM_024685.4
p.E499*
c.1495G>T
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