Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.D250N

BBS12

266 papers

RefSeq Summary

The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This prot...

Pfam Domains

Cpn60_TCP1aa 280–567UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

Bardet-Biedl syndrome 12

HGNC Previous Symbol

C4orf24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152618.3
p.D250N
c.748G>A
Surrounding Variants
1 paper
NM_152618.3
p.D250Y
c.748G>T
1 paper
NM_152618.3
p.G245R
c.733G>A
1 paper
NM_152618.3
p.G245R
c.733G>C
1 paper
NM_152618.3
p.T243I
c.728C>T
1 paper
NM_152618.3
p.T257insFs
c.769_770insA
1 paper
NM_152618.3
p.T257fs
c.769_770fs
2 papers
NM_152618.3
p.T259A
c.775A>G
1 paper
NM_152618.3
p.N238K
c.714T>A
1 paper
NM_152618.3
p.N238K
c.714T>G
1 paper
NM_152618.3
p.N238insFs
c.714dupT
6 papers
NM_152618.3
p.Y263insFs
c.787dupT
2 papers
NM_152618.3
p.Y263H
c.787T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."