Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.A474fs

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
2 papers
NM_024685.4
p.A474fs
c.1420_1421fs
Surrounding Variants
1 paper
NM_024685.4
p.A474fs
c.1420_1421fs
1 paper
NM_024685.4
p.V473A
c.1418T>C
1 paper
NM_024685.4
p.V473D
c.1418T>A
1 paper
NM_024685.4
p.N476fs
c.1426_1427fs
1 paper
NM_024685.4
p.N476delFs
c.1428delG
1 paper
NM_024685.4
p.D471insFs
c.1411_1412insT
1 paper
NM_024685.4
p.D471fs
c.1411_1412fs
1 paper
NM_024685.4
p.A474_D478delFs
c.1420_1432del13
1 paper
NM_024685.4
p.A479E
c.1436C>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.R467K
c.1400G>A
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