Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.R49W

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
26 papers
NM_024685.4
p.R49W
c.145C>T
Surrounding Variants
1 paper
NM_024685.4
p.R49L
c.146G>T
1 paper
NM_024685.4
p.T39_L46del8
c.115_137del24
1 paper
NM_024685.4
p.L46F
c.136C>T
1 paper
NM_024685.4
p.G52D
c.155G>A
1 paper
NM_024685.4
p.R53R
c.159C>T
2 papers
NM_024685.4
p.G43D
c.128G>A
3 papers
NM_024685.4
p.L55P
c.164T>C
1 paper
NM_024685.4
p.L55Q
c.164T>A
1 paper
NM_024685.4
p.T39T
c.117G>A
1 paper
NM_024685.4
p.L60insFs
c.180dupA
1 paper
NM_024685.4
p.V36F
c.106G>T
2 papers
NM_024685.4
p.H62R
c.185A>G
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