Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.I423_K425delFs

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.I423_K425delFs
c.1269_1273del5
Surrounding Variants
2 papers
NM_152618.3
p.C426R
c.1276T>C
2 papers
NM_152618.3
p.C426Y
c.1277G>A
1 paper
NM_152618.3
p.I427M
c.1281A>G
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.L432_G435del4
c.1294_1304del12
2 papers
NM_152618.3
p.L413V
c.1237C>G
1 paper
NM_152618.3
p.L411F
c.1231C>T
1 paper
NM_152618.3
p.S436L
c.1307C>T
3 papers
NM_152618.3
p.K408R
c.1223A>G
1 paper
NM_152618.3
p.G439_S440del1
c.1316_1318delGCA
1 paper
NM_152618.3
p.S440del1
c.1318_1319delAGT
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