Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.T79insFs

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
10 papers
NM_024685.4
p.T79insFs
c.235dupA
Surrounding Variants
1 paper
NM_024685.4
p.T79fs
c.235_236fs
7 papers
NM_024685.4
p.T79fs
c.235_236fs
1 paper
NM_024685.4
p.G80E
c.239G>A
1 paper
NM_024685.4
p.I68_K77del10
c.202_230del30
1 paper
NM_024685.4
p.D81N
c.241G>A
1 paper
NM_024685.4
p.D81_G82delFs
c.243_244delCA
2 papers
NM_024685.4
p.L76F
c.226C>T
1 paper
NM_024685.4
p.H75Q
c.225T>G
1 paper
NM_024685.4
p.K84T
c.251A>C
2 papers
NM_024685.4
p.S73fs
c.217_218fs
1 paper
NM_024685.4
p.F86C
c.257T>G
1 paper
NM_024685.4
p.F86S
c.257T>C
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