Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.I297_K299Fs

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.I297_K299Fs
c.891_897delinsTTTGTFs
Surrounding Variants
2 papers
NM_024685.4
p.H300P
c.899A>C
1 paper
NM_024685.4
p.L301L
c.901C>T
2 papers
NM_024685.4
p.L301V
c.901C>G
2 papers
NM_024685.4
p.M298fs
c.892_893fs
1 paper
NM_024685.4
p.I297T
c.890T>C
1 paper
NM_024685.4
p.S303T
c.908G>C
5 papers
NM_024685.4
p.A296T
c.886G>A
1 paper
NM_024685.4
p.S303fs
c.907_908fs
6 papers
NM_024685.4
p.S303_Q304delFs
c.909_912del4
1 paper
NM_024685.4
p.S303_Q304del2
c.907_911del6
1 paper
NM_024685.4
p.K293T
c.878A>C
5 papers
NM_024685.4
p.L308F
c.924G>T
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