Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.T697_I699del3

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.T697_I699del3
c.2089_2096del9
Surrounding Variants
1 paper
NM_152618.3
p.G693A
c.2078G>C
7 papers
NM_152618.3
p.S701*
c.2102C>A
7 papers
NM_152618.3
p.S701*
c.2102C>G
1 paper
NM_152618.3
p.I690insFs
c.2068dupA
1 paper
NM_152618.3
p.L682_V683insT
c.2044_2048ins3
1 paper
NM_152618.3
p.*711Y
c.2133G>C
1 paper
NM_152618.3
p.*711Y
c.2133G>T
4 papers
NM_152618.3
p.L681_V683del0
c.2041_2049del9
11 papers
NM_152618.3
p.R675*
c.2023C>T
3 papers
NM_152618.3
p.R674C
c.2020C>T
1 paper
NM_152618.3
p.W673_R674insAA
c.2017_2021ins6
3 papers
NM_152618.3
p.W673delFs
c.2019delG
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