Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.K127R

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.K127R
c.380A>G
Surrounding Variants
2 papers
NM_024685.4
p.W126*
c.378G>A
1 paper
NM_024685.4
p.F128S
c.383T>C
1 paper
NM_024685.4
p.W126S
c.377G>C
2 papers
NM_024685.4
p.W126*
c.377G>A
1 paper
NM_024685.4
p.R125R
c.375G>A
1 paper
NM_024685.4
p.S130F
c.389C>T
1 paper
NM_024685.4
p.Q131delFs
c.391delG
2 papers
NM_024685.4
p.N122insFs
c.365dupA
1 paper
NM_024685.4
p.N122delFs
c.365delT
2 papers
NM_024685.4
p.N122fs
c.364_365fs
1 paper
NM_024685.4
p.L133F
c.397C>T
1 paper
NM_024685.4
p.W120*
c.360G>A
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."