Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.V127delFs

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.V127delFs
c.379delG
Surrounding Variants
1 paper
NM_152618.3
p.E126V
c.377A>T
3 papers
NM_152618.3
p.E126D
c.378G>C
3 papers
NM_152618.3
p.E126D
c.378G>T
1 paper
NM_152618.3
p.E126*
c.376G>T
1 paper
NM_152618.3
p.E125_V127insFs
c.373_380dup8
1 paper
NM_152618.3
p.C123R
c.367T>C
1 paper
NM_152618.3
p.L130fs
c.388_389fs
1 paper
NM_152618.3
p.L130delFs
c.389delT
1 paper
NM_152618.3
p.H131delFs
c.391delC
1 paper
NM_152618.3
p.H131N
c.391C>A
8 papers
NM_152618.3
p.G119S
c.355G>A
1 paper
NM_152618.3
p.M116R
c.347T>G
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