Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.D467N

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
5 papers
NM_152618.3
p.D467N
c.1399G>A
Surrounding Variants
3 papers
NM_152618.3
p.G466G
c.1398C>T
1 paper
NM_152618.3
p.G466D
c.1397G>A
1 paper
NM_152618.3
p.G468R
c.1402G>A
1 paper
NM_152618.3
p.G468R
c.1402G>C
1 paper
NM_152618.3
p.C464S
c.1391G>C
1 paper
NM_152618.3
p.C464fs
c.1390_1391fs
1 paper
NM_152618.3
p.C464_V465delFs
c.1392_1395del4
2 papers
NM_152618.3
p.C470C
c.1410C>T
4 papers
NM_152618.3
p.N461H
c.1381A>C
1 paper
NM_152618.3
p.N461fs
c.1381_1382fs
2 papers
NM_152618.3
p.V460V
c.1380G>C
1 paper
NM_152618.3
p.N461_E462delFs
c.1383_1386del4
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