Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.N544S

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
5 papers
NM_024685.4
p.N544S
c.1631A>G
Surrounding Variants
1 paper
NM_024685.4
p.L541P
c.1622T>C
1 paper
NM_024685.4
p.A547D
c.1640C>A
6 papers
NM_024685.4
p.P539L
c.1616C>T
1 paper
NM_024685.4
p.D535_Y536delFs
c.1603_1606del4
2 papers
NM_024685.4
p.Y536H
c.1606T>C
1 paper
NM_024685.4
p.D535V
c.1604A>T
5 papers
NM_024685.4
p.L533_T534delFs
c.1599_1602del4
2 papers
NM_024685.4
p.T534fs
c.1600_1601fs
1 paper
NM_024685.4
p.R532K
c.1595G>A
1 paper
NM_024685.4
p.R530S
c.1590A>T
1 paper
NM_024685.4
p.R530S
c.1590A>C
1 paper
NM_024685.4
p.R530G
c.1588A>G
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