Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.E338_V339del1

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.E338_V339del1
c.1013_1015delCTT
Surrounding Variants
1 paper
NM_024685.4
p.V339D
c.1016T>A
1 paper
NM_024685.4
p.E338*
c.1012G>T
1 paper
NM_024685.4
p.I342insFs
c.1024dupA
1 paper
NM_024685.4
p.I342T
c.1025T>C
1 paper
NM_024685.4
p.R343Q
c.1028G>A
1 paper
NM_024685.4
p.L334fs
c.1000_1001fs
1 paper
NM_024685.4
p.L334insFs
c.1000_1001insGA
1 paper
NM_024685.4
p.C333Y
c.998G>A
1 paper
NM_024685.4
p.G347fs
c.1039_1040fs
3 papers
NM_024685.4
p.V331A
c.992T>C
1 paper
NM_024685.4
p.G347delFs
c.1040delC
1 paper
NM_024685.4
p.L348R
c.1043T>G
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