Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.C371S

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.C371S
c.1112G>C
Surrounding Variants
1 paper
NM_024685.4
p.C371R
c.1111T>C
1 paper
NM_024685.4
p.C371S
c.1111T>A
1 paper
NM_024685.4
p.L374F
c.1120C>T
1 paper
NM_024685.4
p.L374P
c.1121T>C
2 papers
NM_024685.4
p.L367fs
c.1099_1100fs
1 paper
NM_024685.4
p.L376V
c.1126C>G
1 paper
NM_024685.4
p.R377K
c.1130G>A
4 papers
NM_024685.4
p.N364fs
c.1090_1091fs
14 papers
NM_024685.4
p.N364delFs
c.1091delT
1 paper
NM_024685.4
p.S378F
c.1133C>T
8 papers
NM_024685.4
p.N364fs
c.1090_1091fs
4 papers
NM_024685.4
p.P363L
c.1088C>T
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