Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.V214E

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
6 papers
NM_024685.4
p.V214E
c.641T>A
Surrounding Variants
2 papers
NM_024685.4
p.V214A
c.641T>C
1 paper
NM_024685.4
p.F211delFs
c.631_632delAA
1 paper
NM_024685.4
p.G209C
c.625G>T
1 paper
NM_024685.4
p.L221S
c.662T>C
1 paper
NM_024685.4
p.C204*
c.612T>A
1 paper
NM_024685.4
p.V225insFs
c.673_674insAA
2 papers
NM_024685.4
p.C201Y
c.602G>A
1 paper
NM_024685.4
p.G227delins
c.680_681delinsAA
1 paper
NM_024685.4
p.F199del1
c.595_596delGAA
1 paper
NM_024685.4
p.F198del1
c.592_593delAAA
1 paper
NM_024685.4
p.P229L
c.686C>T
1 paper
NM_024685.4
p.V230fs
c.688_689fs
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."