Varaico: Literature-Extracted Genetic Variants

Gene:BBS10
Variant:p.A547D

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.A547D
c.1640C>A
Surrounding Variants
5 papers
NM_024685.4
p.N544S
c.1631A>G
1 paper
NM_024685.4
p.L541P
c.1622T>C
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
16 papers
NM_024685.4
p.Y559*
c.1677C>G
3 papers
NM_024685.4
p.Y559fs
c.1675_1676fs
2 papers
NM_024685.4
p.Y559insFs
c.1676dupA
19 papers
NM_024685.4
p.Y559*
c.1677C>A
1 paper
NM_024685.4
p.E560K
c.1678G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."