Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.G333E

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.G333E
c.998G>A
Surrounding Variants
2 papers
NM_152618.3
p.T336I
c.1007C>T
1 paper
NM_152618.3
p.S328F
c.983C>T
1 paper
NM_152618.3
p.S327T
c.979T>A
2 papers
NM_152618.3
p.S328_C329del1
c.983_985delCTT
2 papers
NM_152618.3
p.L320Q
c.959T>A
5 papers
NM_152618.3
p.I346T
c.1037T>C
1 paper
NM_152618.3
p.C318*
c.954C>A
1 paper
NM_152618.3
p.Q350*
c.1048C>T
5 papers
NM_152618.3
p.Q352P
c.1055A>C
1 paper
NM_152618.3
p.R314G
c.940A>G
19 papers
NM_152618.3
p.R355*
c.1063C>T
1 paper
NM_152618.3
p.R355Q
c.1064G>A
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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."