Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.H187N

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.H187N
c.559C>A
Surrounding Variants
1 paper
NM_024685.4
p.H187del1
c.559_561delATG
1 paper
NM_024685.4
p.I190T
c.569T>C
1 paper
NM_024685.4
p.S191L
c.572C>T
1 paper
NM_024685.4
p.L193S
c.578T>C
6 papers
NM_024685.4
p.G180E
c.539G>A
1 paper
NM_024685.4
p.C195G
c.583T>G
3 papers
NM_024685.4
p.C195W
c.585T>G
2 papers
NM_024685.4
p.Y177*
c.531C>G
2 papers
NM_024685.4
p.Y177*
c.531C>A
1 paper
NM_024685.4
p.D196G
c.587A>G
5 papers
NM_024685.4
p.Y177C
c.530A>G
6 papers
NM_024685.4
p.Y197C
c.590A>G
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