Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.L19R

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.L19R
c.56T>G
Surrounding Variants
1 paper
NM_152618.3
p.L19L
c.57T>A
2 papers
NM_152618.3
p.S21_F22del1
c.62_64delCAT
1 paper
NM_152618.3
p.S20_F22del3
c.58_65del9
1 paper
NM_152618.3
p.F22S
c.65T>C
1 paper
NM_152618.3
p.A23S
c.67G>T
1 paper
NM_152618.3
p.A23V
c.68C>T
1 paper
NM_152618.3
p.G15*
c.43G>T
2 papers
NM_152618.3
p.R27G
c.79A>G
1 paper
NM_152618.3
p.T28_P32del5
c.82_95del15
1 paper
NM_152618.3
p.R11fs
c.31_32fs
2 papers
NM_152618.3
p.K10_R11delFs
c.28_32del5
1 paper
NM_152618.3
p.L30_K34del5
c.88_101del15
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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."