Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.N462fs

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.N462fs
c.1384_1385fs
Surrounding Variants
1 paper
NM_024685.4
p.N462delFs
c.1385delT
1 paper
NM_024685.4
p.G461S
c.1381G>A
9 papers
NM_024685.4
p.S464*
c.1391C>G
8 papers
NM_024685.4
p.S464*
c.1391C>A
1 paper
NM_024685.4
p.R467K
c.1400G>A
1 paper
NM_024685.4
p.Q456insFs
c.1367_1368insT
2 papers
NM_024685.4
p.Y455*
c.1365T>G
2 papers
NM_024685.4
p.Y455*
c.1365T>A
3 papers
NM_024685.4
p.Y469*
c.1407T>G
2 papers
NM_024685.4
p.Y469*
c.1407T>A
1 paper
NM_024685.4
p.S454G
c.1360A>G
1 paper
NM_024685.4
p.D471insFs
c.1411_1412insT
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