Varaico: Literature-Extracted Genetic Variants

Gene:BBS12

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
1–12 of 319 variants
19 papers
NM_152618.3
p.R355*
c.1063C>T
13 papers
NM_152618.3
p.I39T
c.116T>C
11 papers
NM_152618.3
p.R386Q
c.1157G>A
11 papers
NM_152618.3
p.R675*
c.2023C>T
10 papers
NM_152618.3
p.F372delFs
c.1115_1116delTT
8 papers
NM_152618.3
p.G119S
c.355G>A
7 papers
NM_152618.3
p.Q620R
c.1859A>G
7 papers
NM_152618.3
p.A672T
c.2014G>A
7 papers
NM_152618.3
p.S701*
c.2102C>A
7 papers
NM_152618.3
p.S701*
c.2102C>G
6 papers
NM_152618.3
p.L89delFs
c.265_266delTT
6 papers
NM_152618.3
p.Y263insFs
c.787dupT
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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."