Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.Y263H

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
2 papers
NM_152618.3
p.Y263H
c.787T>C
Surrounding Variants
5 papers
NM_152618.3
p.Y263fs
c.787_788fs
1 paper
NM_152618.3
p.Y263*
c.789C>A
6 papers
NM_152618.3
p.Y263insFs
c.787dupT
1 paper
NM_152618.3
p.Y263*
c.789C>G
4 papers
NM_152618.3
p.C265_N266del2
c.793_797del6
1 paper
NM_152618.3
p.N266Fs
c.798delinsTTFs
1 paper
NM_152618.3
p.N266delins
c.797_798delinsTT
2 papers
NM_152618.3
p.T259A
c.775A>G
1 paper
NM_152618.3
p.T257fs
c.769_770fs
1 paper
NM_152618.3
p.T257insFs
c.769_770insA
1 paper
NM_152618.3
p.D250N
c.748G>A
1 paper
NM_152618.3
p.D250Y
c.748G>T
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