Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.I88T

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.I88T
c.263T>C
Surrounding Variants
2 papers
NM_024685.4
p.I87_I88del1
c.261_263delATA
2 papers
NM_024685.4
p.I88del1
c.262_263delGAT
1 paper
NM_024685.4
p.F86C
c.257T>G
1 paper
NM_024685.4
p.F86S
c.257T>C
1 paper
NM_024685.4
p.L90fs
c.268_269fs
1 paper
NM_024685.4
p.T79_L90del12
c.235_269del36
50 papers
NM_024685.4
p.C91fs
c.271_272fs
68 papers
NM_024685.4
p.C91insFs
c.271dupT
1 paper
NM_024685.4
p.C91Y
c.272G>A
21 papers
NM_024685.4
p.C91W
c.273C>G
17 papers
NM_024685.4
p.C91fs
c.271_272fs
1 paper
NM_024685.4
p.C91delFs
c.271_272delCA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."