Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.T524R

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.T524R
c.1571C>G
Surrounding Variants
1 paper
NM_024685.4
p.T522_L523insFs
c.1566_1569dup4
1 paper
NM_024685.4
p.T524fs
c.1570_1571fs
1 paper
NM_024685.4
p.L523M
c.1567C>A
1 paper
NM_024685.4
p.T522M
c.1565C>T
1 paper
NM_024685.4
p.E521K
c.1561G>A
1 paper
NM_024685.4
p.V520I
c.1558G>A
1 paper
NM_024685.4
p.R530G
c.1588A>G
1 paper
NM_024685.4
p.R530S
c.1590A>T
1 paper
NM_024685.4
p.R530S
c.1590A>C
1 paper
NM_024685.4
p.T516delFs
c.1547delG
1 paper
NM_024685.4
p.R532K
c.1595G>A
2 papers
NM_024685.4
p.D515_T516insFs
c.1543_1546dup4
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