Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.F310insFs

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.F310insFs
c.930dupT
Surrounding Variants
1 paper
NM_152618.3
p.D311N
c.931G>A
1 paper
NM_152618.3
p.P307L
c.920C>T
1 paper
NM_152618.3
p.R314G
c.940A>G
2 papers
NM_152618.3
p.Q301*
c.901C>T
1 paper
NM_152618.3
p.C318*
c.954C>A
3 papers
NM_152618.3
p.Q300*
c.898C>T
2 papers
NM_152618.3
p.L320Q
c.959T>A
3 papers
NM_152618.3
p.Y294D
c.880T>G
1 paper
NM_152618.3
p.Q293Q
c.879A>G
1 paper
NM_152618.3
p.Q293P
c.878A>C
2 papers
NM_152618.3
p.S328_C329del1
c.983_985delCTT
1 paper
NM_152618.3
p.S327T
c.979T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."