Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.E42K

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.E42K
c.124G>A
Surrounding Variants
13 papers
NM_152618.3
p.I39T
c.116T>C
1 paper
NM_152618.3
p.S47N
c.140G>A
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.I50S
c.149T>G
1 paper
NM_152618.3
p.S51T
c.152G>C
1 paper
NM_152618.3
p.S52delFs
c.154delT
1 paper
NM_152618.3
p.S52delFs
c.155delC
1 paper
NM_152618.3
p.S52*
c.155C>A
1 paper
NM_152618.3
p.S52*
c.155C>G
1 paper
NM_152618.3
p.P32delFs
c.95delC
1 paper
NM_152618.3
p.T53P
c.157A>C
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