Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Q139H

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
2 papers
NM_024685.4
p.Q139H
c.417A>T
Surrounding Variants
2 papers
NM_024685.4
p.Q139P
c.416A>C
1 paper
NM_024685.4
p.Q137H
c.411G>C
1 paper
NM_024685.4
p.Q137Q
c.411G>A
1 paper
NM_024685.4
p.D142H
c.424G>C
8 papers
NM_024685.4
p.D142N
c.424G>A
1 paper
NM_024685.4
p.F136L
c.408T>G
1 paper
NM_024685.4
p.F136L
c.408T>A
1 paper
NM_024685.4
p.F136L
c.406T>C
1 paper
NM_024685.4
p.T135insFs
c.404dupC
1 paper
NM_024685.4
p.M145T
c.434T>C
1 paper
NM_024685.4
p.I144_M145delFs
c.432_435del4
1 paper
NM_024685.4
p.L133F
c.397C>T
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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."