Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.T657K

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.T657K
c.1970C>A
Surrounding Variants
2 papers
NM_024685.4
p.T657A
c.1969A>G
2 papers
NM_024685.4
p.H656delFs
c.1967delT
4 papers
NM_024685.4
p.S653_H656delFs
c.1958_1967del10
1 paper
NM_024685.4
p.Y658F
c.1973A>T
1 paper
NM_024685.4
p.Y658C
c.1973A>G
4 papers
NM_024685.4
p.Y658*
c.1974T>G
2 papers
NM_024685.4
p.Y658*
c.1974T>A
1 paper
NM_024685.4
p.H656fs
c.1966_1967fs
1 paper
NM_024685.4
p.I659L
c.1975A>T
1 paper
NM_024685.4
p.I659V
c.1975A>G
1 paper
NM_024685.4
p.I659L
c.1975A>C
2 papers
NM_024685.4
p.S653fs
c.1957_1958fs
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."