Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.P159L

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
5 papers
NM_152618.3
p.P159L
c.476C>T
Surrounding Variants
1 paper
NM_152618.3
p.L161L
c.481C>T
1 paper
NM_152618.3
p.Q162del1
c.484_486delCAG
1 paper
NM_152618.3
p.Q162delFs
c.485_486delAG
1 paper
NM_152618.3
p.V155L
c.463G>C
1 paper
NM_152618.3
p.V155L
c.463G>T
1 paper
NM_152618.3
p.P164S
c.490C>T
1 paper
NM_152618.3
p.I170V
c.508A>G
1 paper
NM_152618.3
p.T144_K145delFs
c.432_435del4
1 paper
NM_152618.3
p.D178G
c.533A>G
2 papers
NM_152618.3
p.C140_M141delFs
c.420_423del4
1 paper
NM_152618.3
p.S187delFs
c.560_561delCC
1 paper
NM_152618.3
p.H131N
c.391C>A
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