Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.R386Q

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
11 papers
NM_152618.3
p.R386Q
c.1157G>A
Surrounding Variants
1 paper
NM_152618.3
p.R386W
c.1156C>T
2 papers
NM_152618.3
p.R386delins
c.1156_1157delinsTA
2 papers
NM_152618.3
p.S384fs
c.1150_1151fs
2 papers
NM_152618.3
p.S384delFs
c.1151delG
1 paper
NM_152618.3
p.S384_L387del4
c.1150_1160del12
1 paper
NM_152618.3
p.D390delFs
c.1170delC
1 paper
NM_152618.3
p.V381fs
c.1141_1142fs
1 paper
NM_152618.3
p.T380I
c.1139C>T
1 paper
NM_152618.3
p.T380delFs
c.1140delA
1 paper
NM_152618.3
p.A376S
c.1126G>T
1 paper
NM_152618.3
p.A397V
c.1190C>T
2 papers
NM_152618.3
p.A397A
c.1191A>G
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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."