Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.D515D

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.D515D
c.1545T>C
Surrounding Variants
3 papers
NM_024685.4
p.T516fs
c.1546_1547fs
2 papers
NM_024685.4
p.D515fs
c.1543_1544fs
2 papers
NM_024685.4
p.T514delFs
c.1542delT
2 papers
NM_024685.4
p.D515_T516insFs
c.1543_1546dup4
2 papers
NM_024685.4
p.T514fs
c.1540_1541fs
1 paper
NM_024685.4
p.T516delFs
c.1547delG
1 paper
NM_024685.4
p.T512T
c.1536A>G
1 paper
NM_024685.4
p.V520I
c.1558G>A
1 paper
NM_024685.4
p.E521K
c.1561G>A
1 paper
NM_024685.4
p.P509insFs
c.1527dupC
1 paper
NM_024685.4
p.T510fs
c.1528_1529fs
1 paper
NM_024685.4
p.T522M
c.1565C>T
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