Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.Y598D

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.Y598D
c.1792T>G
Surrounding Variants
1 paper
NM_152618.3
p.Q596*
c.1786C>T
1 paper
NM_152618.3
p.G594fs
c.1780_1781fs
1 paper
NM_152618.3
p.N593_G594insFs
c.1779_1780insA
1 paper
NM_152618.3
p.F590_L591del2
c.1768_1772del6
1 paper
NM_152618.3
p.Y609*
c.1827C>A
1 paper
NM_152618.3
p.Y609*
c.1827C>G
1 paper
NM_152618.3
p.Y583N
c.1747T>A
7 papers
NM_152618.3
p.Q620R
c.1859A>G
1 paper
NM_152618.3
p.W575L
c.1724G>T
4 papers
NM_152618.3
p.Q624Q
c.1872A>G
1 paper
NM_152618.3
p.G630fs
c.1888_1889fs
2 papers
NM_152618.3
p.S631_P632delFs
c.1893_1894delTC
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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."