Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.P350fs

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.P350fs
c.1048_1049fs
Surrounding Variants
1 paper
NM_024685.4
p.P350S
c.1048C>T
2 papers
NM_024685.4
p.L348_S349delFs
c.1044_1045delAA
1 paper
NM_024685.4
p.L348fs
c.1042_1043fs
1 paper
NM_024685.4
p.L348R
c.1043T>G
1 paper
NM_024685.4
p.G347delFs
c.1040delC
1 paper
NM_024685.4
p.G347fs
c.1039_1040fs
2 papers
NM_024685.4
p.Q355*
c.1063C>T
1 paper
NM_024685.4
p.R343Q
c.1028G>A
1 paper
NM_024685.4
p.I342insFs
c.1024dupA
1 paper
NM_024685.4
p.I342T
c.1025T>C
3 papers
NM_024685.4
p.Q359*
c.1075C>T
1 paper
NM_024685.4
p.Q359E
c.1075C>G
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