Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.W520*

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
3 papers
NM_152618.3
p.W520*
c.1559G>A
Surrounding Variants
3 papers
NM_152618.3
p.W520*
c.1560G>A
1 paper
NM_152618.3
p.F519C
c.1556T>G
1 paper
NM_152618.3
p.C522W
c.1566T>G
2 papers
NM_152618.3
p.Y524C
c.1571A>G
6 papers
NM_152618.3
p.R525H
c.1574G>A
1 paper
NM_152618.3
p.R525P
c.1574G>C
2 papers
NM_152618.3
p.L526S
c.1577T>C
1 paper
NM_152618.3
p.Q513*
c.1537C>T
1 paper
NM_152618.3
p.Q513delFs
c.1538delA
1 paper
NM_152618.3
p.Q513del1
c.1537_1538delCAA
1 paper
NM_152618.3
p.Y528*
c.1584T>A
1 paper
NM_152618.3
p.Y528*
c.1584T>G
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