Varaico: Literature-Extracted Genetic Variants

Gene:BBS5

BBS5

181 papers

RefSeq Summary

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learn...

Pfam Domains

BBL5aa 7–339UCSCBardet-Biedl syndrome 5 protein

Gene Aliases

HGNC Name

Bardet-Biedl syndrome 5

HGNC Alias Symbol

DKFZp762I194

Papers
RefSeq ID
Protein change
DNA change
1–12 of 150 variants
27 papers
NM_152384.3
p.N184S
c.551A>G
13 papers
NM_152384.3
p.M1K
c.2T>A
12 papers
NM_152384.3
p.R207H
c.620G>A
11 papers
NM_152384.3
p.G72S
c.214G>A
11 papers
NM_152384.3
p.L322insFs
c.966dupT
10 papers
NM_152384.3
p.L50R
c.149T>G
9 papers
NM_152384.3
p.R138H
c.413G>A
8 papers
NM_152384.3
p.I206_R207Splc
c.619-1G>C
8 papers
NM_152384.3
p.A323fs
c.967_968fs
7 papers
NM_152384.3
p.R56G
c.166A>G
7 papers
NM_152384.3
p.L142*
c.425T>G
6 papers
NM_152384.3
p.M1L
c.1A>T
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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."