Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.G683D

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.G683D
c.2048G>A
Surrounding Variants
1 paper
NM_024685.4
p.K684fs
c.2050_2051fs
1 paper
NM_024685.4
p.K684delFs
c.2052delT
1 paper
NM_024685.4
p.Q686*
c.2056C>T
2 papers
NM_024685.4
p.L687P
c.2060T>C
2 papers
NM_024685.4
p.E679K
c.2035G>A
4 papers
NM_024685.4
p.T689P
c.2065A>C
3 papers
NM_024685.4
p.G677V
c.2030G>T
1 paper
NM_024685.4
p.Q675insFs
c.2024dupA
1 paper
NM_024685.4
p.S673_S674insAA
c.2017_2021ins6
1 paper
NM_024685.4
p.C694R
c.2080T>C
1 paper
NM_024685.4
p.K697N
c.2091A>T
1 paper
NM_024685.4
p.K697N
c.2091A>C
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