Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.S61T

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.S61T
c.181T>A
Surrounding Variants
1 paper
NM_152384.3
p.L62delFs
c.185delT
3 papers
NM_152384.3
p.S61S
c.183T>A
4 papers
NM_152384.3
p.W59*
c.177G>A
4 papers
NM_152384.3
p.W59*
c.176G>A
2 papers
NM_152384.3
p.R66delFs
c.196delA
1 paper
NM_152384.3
p.R56K
c.167G>A
7 papers
NM_152384.3
p.R56G
c.166A>G
2 papers
NM_152384.3
p.R66fs
c.196_197fs
1 paper
NM_152384.3
p.L55S
c.164T>C
4 papers
NM_152384.3
p.T53I
c.158C>T
1 paper
NM_152384.3
p.V69G
c.206T>G
4 papers
NM_152384.3
p.S70Splc
c.208+2T>C
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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."