Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.P507del1

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.P507del1
c.1519_1520delCCA
Surrounding Variants
2 papers
NM_152618.3
p.N506K
c.1518C>A
2 papers
NM_152618.3
p.N506K
c.1518C>G
1 paper
NM_152618.3
p.P507delFs
c.1520delC
1 paper
NM_152618.3
p.V508insFs
c.1522_1523insGG
1 paper
NM_152618.3
p.V508I
c.1522G>A
6 papers
NM_152618.3
p.Q511_Q513del0
c.1531_1539del9
2 papers
NM_152618.3
p.V503M
c.1507G>A
2 papers
NM_152618.3
p.A502A
c.1506C>T
1 paper
NM_152618.3
p.A502S
c.1504G>T
1 paper
NM_152618.3
p.A502_T505del4
c.1504_1514del12
5 papers
NM_152618.3
p.T501M
c.1502C>T
1 paper
NM_152618.3
p.Q513del1
c.1537_1538delCAA
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."