Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.L89delFs

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
6 papers
NM_152618.3
p.L89delFs
c.265_266delTT
Surrounding Variants
1 paper
NM_152618.3
p.L88R
c.263T>G
2 papers
NM_152618.3
p.L89fs
c.265_266fs
3 papers
NM_152618.3
p.L89fs
c.265_266fs
1 paper
NM_152618.3
p.F90delFs
c.268delT
1 paper
NM_152618.3
p.F90fs
c.268_269fs
2 papers
NM_152618.3
p.S86_G93insFs
c.256_278dup23
1 paper
NM_152618.3
p.L91insFs
c.271dupC
1 paper
NM_152618.3
p.Y81N
c.241T>A
1 paper
NM_152618.3
p.A98T
c.292G>A
1 paper
NM_152618.3
p.Q75delFs
c.223delC
1 paper
NM_152618.3
p.V74I
c.220G>A
1 paper
NM_152618.3
p.E72K
c.214G>A
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