Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.A397A

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
2 papers
NM_152618.3
p.A397A
c.1191A>G
Surrounding Variants
1 paper
NM_152618.3
p.A397V
c.1190C>T
1 paper
NM_152618.3
p.V400M
c.1198G>A
1 paper
NM_152618.3
p.V400A
c.1199T>C
1 paper
NM_152618.3
p.V403M
c.1207G>A
1 paper
NM_152618.3
p.D390delFs
c.1170delC
1 paper
NM_152618.3
p.Q406delFs
c.1216_1217delCA
3 papers
NM_152618.3
p.K408R
c.1223A>G
11 papers
NM_152618.3
p.R386Q
c.1157G>A
1 paper
NM_152618.3
p.R386W
c.1156C>T
2 papers
NM_152618.3
p.R386delins
c.1156_1157delinsTA
1 paper
NM_152618.3
p.L411F
c.1231C>T
2 papers
NM_152618.3
p.S384fs
c.1150_1151fs
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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."