Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.P394insFs

BBS10

324 papers

RefSeq Summary

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, ...

Pfam Domains

Cpn60_TCP1aa 21–109UCSCTCP-1/cpn60 chaperonin family

Gene Aliases

HGNC Name

Bardet-Biedl syndrome 10

HGNC Previous Symbol

C12orf58

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024685.4
p.P394insFs
c.1181_1182ins4
Surrounding Variants
1 paper
NM_024685.4
p.P394insFs
c.1181_1182ins8
2 papers
NM_024685.4
p.P394insFs
c.1181_1182ins11
1 paper
NM_024685.4
p.P394Q
c.1181C>A
1 paper
NM_024685.4
p.P394_H395insFs
c.1182_1183ins8
1 paper
NM_024685.4
p.P394_H395insFs
c.1182_1183ins4
2 papers
NM_024685.4
p.A391_P394insFs
c.1171_1181dup11
1 paper
NM_024685.4
p.H395fs
c.1183_1184fs
1 paper
NM_024685.4
p.H395L
c.1184A>T
1 paper
NM_024685.4
p.H395R
c.1184A>G
1 paper
NM_024685.4
p.H395Q
c.1185C>G
1 paper
NM_024685.4
p.H395insFs
c.1184dupA
1 paper
NM_024685.4
p.H395Q
c.1185C>A
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