Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.A323fs

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
8 papers
NM_152384.3
p.A323fs
c.967_968fs
Surrounding Variants
1 paper
NM_152384.3
p.A323V
c.968C>T
1 paper
NM_152384.3
p.L322fs
c.964_965fs
11 papers
NM_152384.3
p.L322insFs
c.966dupT
1 paper
NM_152384.3
p.G321E
c.962G>A
1 paper
NM_152384.3
p.E318K
c.952G>A
5 papers
NM_152384.3
p.E319del1
c.955_957delGAA
1 paper
NM_152384.3
p.S317_E318del2
c.949_953del6
1 paper
NM_152384.3
p.R312H
c.935G>A
2 papers
NM_152384.3
p.R312C
c.934C>T
1 paper
NM_152384.3
p.Q309*
c.925C>T
1 paper
NM_152384.3
p.Q309fs
c.925_926fs
1 paper
NM_152384.3
p.K308_Q309Splc
c.925-4A>G
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."