Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.L50H

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
1 paper
NM_152384.3
p.L50H
c.149T>A
Surrounding Variants
10 papers
NM_152384.3
p.L50R
c.149T>G
4 papers
NM_152384.3
p.L50I
c.148C>A
1 paper
NM_152384.3
p.G48A
c.143G>C
2 papers
NM_152384.3
p.G48Splc
c.143-1G>A
4 papers
NM_152384.3
p.G48Splc
c.143-1G>C
4 papers
NM_152384.3
p.T53I
c.158C>T
1 paper
NM_152384.3
p.L55S
c.164T>C
7 papers
NM_152384.3
p.R56G
c.166A>G
1 paper
NM_152384.3
p.R56K
c.167G>A
4 papers
NM_152384.3
p.W59*
c.176G>A
4 papers
NM_152384.3
p.W59*
c.177G>A
2 papers
NM_152384.3
p.S61T
c.181T>A
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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."