Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Y559*

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
16 papers
NM_024685.4
p.Y559*
c.1677C>G
Surrounding Variants
3 papers
NM_024685.4
p.Y559fs
c.1675_1676fs
2 papers
NM_024685.4
p.Y559insFs
c.1676dupA
19 papers
NM_024685.4
p.Y559*
c.1677C>A
1 paper
NM_024685.4
p.E560K
c.1678G>A
5 papers
NM_024685.4
p.Y559delFs
c.1677delG
1 paper
NM_024685.4
p.Y559_N561del3
c.1675_1682del9
1 paper
NM_024685.4
p.I567T
c.1700T>C
1 paper
NM_024685.4
p.T568fs
c.1702_1703fs
1 paper
NM_024685.4
p.T568delFs
c.1702delT
1 paper
NM_024685.4
p.A547D
c.1640C>A
5 papers
NM_024685.4
p.N544S
c.1631A>G
1 paper
NM_024685.4
p.L541P
c.1622T>C
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