Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.R368H

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.R368H
c.1103G>A
Surrounding Variants
2 papers
NM_152618.3
p.R368C
c.1102C>T
10 papers
NM_152618.3
p.F372delFs
c.1115_1116delTT
1 paper
NM_152618.3
p.E365fs
c.1093_1094fs
5 papers
NM_152618.3
p.F372fs
c.1114_1115fs
1 paper
NM_152618.3
p.F372fs
c.1114_1115fs
1 paper
NM_152618.3
p.T364insFs
c.1092dupA
4 papers
NM_152618.3
p.T364delFs
c.1092delA
1 paper
NM_152618.3
p.T364delFs
c.1090delA
1 paper
NM_152618.3
p.G361fs
c.1081_1082fs
1 paper
NM_152618.3
p.A376S
c.1126G>T
1 paper
NM_152618.3
p.G361delFs
c.1082delG
1 paper
NM_152618.3
p.L358I
c.1072C>A
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