Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.Q513del1

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.Q513del1
c.1537_1538delCAA
Surrounding Variants
1 paper
NM_152618.3
p.Q513*
c.1537C>T
1 paper
NM_152618.3
p.Q513delFs
c.1538delA
6 papers
NM_152618.3
p.Q511_Q513del0
c.1531_1539del9
1 paper
NM_152618.3
p.V508I
c.1522G>A
1 paper
NM_152618.3
p.V508insFs
c.1522_1523insGG
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.P507del1
c.1519_1520delCCA
1 paper
NM_152618.3
p.P507delFs
c.1520delC
1 paper
NM_152618.3
p.F519C
c.1556T>G
3 papers
NM_152618.3
p.W520*
c.1559G>A
3 papers
NM_152618.3
p.W520*
c.1560G>A
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