Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.Q423_F425delFs

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.Q423_F425delFs
c.1269_1273del5
Surrounding Variants
1 paper
NM_024685.4
p.F425_K426insT
c.1273_1277ins3
1 paper
NM_024685.4
p.K426E
c.1276A>G
1 paper
NM_024685.4
p.R422L
c.1265G>T
1 paper
NM_024685.4
p.R422Q
c.1265G>A
2 papers
NM_024685.4
p.R422W
c.1264C>T
1 paper
NM_024685.4
p.M420L
c.1258A>T
1 paper
NM_024685.4
p.M420L
c.1258A>C
2 papers
NM_024685.4
p.A417V
c.1250C>T
1 paper
NM_024685.4
p.A417E
c.1250C>A
2 papers
NM_024685.4
p.A417T
c.1249G>A
1 paper
NM_024685.4
p.G416R
c.1246G>C
1 paper
NM_024685.4
p.G416R
c.1246G>A
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