Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.C546F

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.C546F
c.1637G>T
Surrounding Variants
1 paper
NM_152618.3
p.C546*
c.1638T>A
1 paper
NM_152618.3
p.S548insFs
c.1643dupG
1 paper
NM_152618.3
p.S548C
c.1642A>T
2 papers
NM_152618.3
p.S548delFs
c.1643delG
1 paper
NM_152618.3
p.F544L
c.1632T>A
1 paper
NM_152618.3
p.F544L
c.1632T>G
1 paper
NM_152618.3
p.F544L
c.1630T>C
2 papers
NM_152618.3
p.E543K
c.1627G>A
1 paper
NM_152618.3
p.L550P
c.1649T>C
5 papers
NM_152618.3
p.G540D
c.1619G>A
2 papers
NM_152618.3
p.G540V
c.1619G>T
2 papers
NM_152618.3
p.G539D
c.1616G>A
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