Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.D480delFs

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.D480delFs
c.1438delG
Surrounding Variants
1 paper
NM_152618.3
p.D480fs
c.1438_1439fs
1 paper
NM_152618.3
p.D483D
c.1449T>C
1 paper
NM_152618.3
p.R484_N486del3
c.1450_1457del9
1 paper
NM_152618.3
p.R484K
c.1451G>A
1 paper
NM_152618.3
p.N485_N486del2
c.1453_1457del6
1 paper
NM_152618.3
p.N485fs
c.1453_1454fs
1 paper
NM_152618.3
p.N485delFs
c.1455delC
2 papers
NM_152618.3
p.C470C
c.1410C>T
1 paper
NM_152618.3
p.A489T
c.1465G>A
1 paper
NM_152618.3
p.G468R
c.1402G>A
1 paper
NM_152618.3
p.G468R
c.1402G>C
5 papers
NM_152618.3
p.D467N
c.1399G>A
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