Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.S436L

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.S436L
c.1307C>T
Surrounding Variants
1 paper
NM_152618.3
p.G439_S440del1
c.1316_1318delGCA
1 paper
NM_152618.3
p.S440del1
c.1318_1319delAGT
3 papers
NM_152618.3
p.S440_M442insFs
c.1320_1326dup7
1 paper
NM_152618.3
p.L432_G435del4
c.1294_1304del12
2 papers
NM_152618.3
p.Q443fs
c.1327_1328fs
1 paper
NM_152618.3
p.S429T
c.1286G>C
1 paper
NM_152618.3
p.K430insFs
c.1288_1289insTA
1 paper
NM_152618.3
p.I427M
c.1281A>G
2 papers
NM_152618.3
p.C426Y
c.1277G>A
2 papers
NM_152618.3
p.C426R
c.1276T>C
1 paper
NM_152618.3
p.I423_K425delFs
c.1269_1273del5
4 papers
NM_152618.3
p.T458insFs
c.1372dupA
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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."