Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.H410N

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.H410N
c.1228C>A
Surrounding Variants
1 paper
NM_024685.4
p.H410Y
c.1228C>T
2 papers
NM_024685.4
p.Q409delFs
c.1227delT
1 paper
NM_024685.4
p.H410Q
c.1230T>G
1 paper
NM_024685.4
p.H410Q
c.1230T>A
1 paper
NM_024685.4
p.Q409fs
c.1225_1226fs
1 paper
NM_024685.4
p.D412H
c.1234G>C
7 papers
NM_024685.4
p.L414S
c.1241T>C
3 papers
NM_024685.4
p.H415fs
c.1243_1244fs
3 papers
NM_024685.4
p.H415delFs
c.1244delT
2 papers
NM_024685.4
p.H404R
c.1211A>G
1 paper
NM_024685.4
p.G416R
c.1246G>C
1 paper
NM_024685.4
p.G416R
c.1246G>A
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