Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.P32delFs

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.P32delFs
c.95delC
Surrounding Variants
1 paper
NM_152618.3
p.L30_K34del5
c.88_101del15
1 paper
NM_152618.3
p.S35*
c.104C>A
1 paper
NM_152618.3
p.S35*
c.104C>G
1 paper
NM_152618.3
p.T28_P32del5
c.82_95del15
2 papers
NM_152618.3
p.R27G
c.79A>G
1 paper
NM_152618.3
p.A23V
c.68C>T
13 papers
NM_152618.3
p.I39T
c.116T>C
1 paper
NM_152618.3
p.A23S
c.67G>T
1 paper
NM_152618.3
p.F22S
c.65T>C
1 paper
NM_152618.3
p.E42K
c.124G>A
1 paper
NM_152618.3
p.L19L
c.57T>A
2 papers
NM_152618.3
p.S21_F22del1
c.62_64delCAT
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