Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.T627I

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.T627I
c.1880C>T
Surrounding Variants
1 paper
NM_024685.4
p.S630fs
c.1888_1889fs
1 paper
NM_024685.4
p.S624L
c.1871C>T
5 papers
NM_024685.4
p.M631fs
c.1891_1892fs
1 paper
NM_024685.4
p.M631I
c.1893G>T
1 paper
NM_024685.4
p.M631I
c.1893G>C
1 paper
NM_024685.4
p.M631I
c.1893G>A
1 paper
NM_024685.4
p.K619_H622delFs
c.1856_1865del10
1 paper
NM_024685.4
p.S630_M631delFs
c.1889_1893del5
1 paper
NM_024685.4
p.H622R
c.1865A>G
6 papers
NM_024685.4
p.M631_I632delFs
c.1892_1896del5
1 paper
NM_024685.4
p.L615_C621delFs
c.1845_1861del17
1 paper
NM_024685.4
p.M631_I632del2
c.1891_1895del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."