Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.G385D

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.G385D
c.1154G>A
Surrounding Variants
1 paper
NM_024685.4
p.V382F
c.1144G>T
1 paper
NM_024685.4
p.V382L
c.1144G>C
1 paper
NM_024685.4
p.Y381*
c.1143T>G
1 paper
NM_024685.4
p.Y381*
c.1143T>A
1 paper
NM_024685.4
p.S378F
c.1133C>T
1 paper
NM_024685.4
p.R377K
c.1130G>A
1 paper
NM_024685.4
p.P394insFs
c.1181_1182ins8
1 paper
NM_024685.4
p.P394insFs
c.1181_1182ins4
2 papers
NM_024685.4
p.P394insFs
c.1181_1182ins11
1 paper
NM_024685.4
p.P394Q
c.1181C>A
1 paper
NM_024685.4
p.L376V
c.1126C>G
1 paper
NM_024685.4
p.P394_H395insFs
c.1182_1183ins8
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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."