Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.N44K

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
Selected Variant
2 papers
NM_152384.3
p.N44K
c.132T>G
Surrounding Variants
2 papers
NM_152384.3
p.N44K
c.132T>A
1 paper
NM_152384.3
p.G42fs
c.124_125fs
3 papers
NM_152384.3
p.G42fs
c.124_125fs
1 paper
NM_152384.3
p.K41fs
c.121_122fs
1 paper
NM_152384.3
p.G48Splc
c.142+1G>A
1 paper
NM_152384.3
p.G48A
c.143G>C
6 papers
NM_152384.3
p.K41delFs
c.123delA
2 papers
NM_152384.3
p.I37T
c.110T>C
1 paper
NM_152384.3
p.I31T
c.92T>C
1 paper
NM_152384.3
p.E28K
c.82G>A
1 paper
NM_152384.3
p.R25delFs
c.74delG
1 paper
NM_152384.3
p.T24R
c.71C>G
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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."