Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Y448fs

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.Y448fs
c.1342_1343fs
Surrounding Variants
1 paper
NM_024685.4
p.K449E
c.1345A>G
1 paper
NM_024685.4
p.I447V
c.1339A>G
1 paper
NM_024685.4
p.F446delFs
c.1337_1338delAA
1 paper
NM_024685.4
p.L445_F446delFs
c.1335_1338del4
1 paper
NM_024685.4
p.L445_F446delFs
c.1334_1338del5
1 paper
NM_024685.4
p.I447_Y448delFs
c.1341_1344del4
1 paper
NM_024685.4
p.F446fs
c.1336_1337fs
1 paper
NM_024685.4
p.L445_F446insC
c.1333_1337ins3
1 paper
NM_024685.4
p.T442I
c.1325C>T
1 paper
NM_024685.4
p.S454G
c.1360A>G
2 papers
NM_024685.4
p.Y455*
c.1365T>G
2 papers
NM_024685.4
p.Y455*
c.1365T>A
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