Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.Q91insFs

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.Q91insFs
c.271dupC
Surrounding Variants
5 papers
NM_152384.3
p.R89*
c.265C>T
1 paper
NM_152384.3
p.T92I
c.275C>T
1 paper
NM_152384.3
p.L88_Q91Fs
c.263_271delinsGCTCTTAFs
1 paper
NM_152384.3
p.L88fs
c.262_263fs
1 paper
NM_152384.3
p.T99delFs
c.296_297delCA
1 paper
NM_152384.3
p.R105C
c.313C>T
1 paper
NM_152384.3
p.F106delFs
c.317_318delTT
1 paper
NM_152384.3
p.F106_T111del6
c.316_332del18
1 paper
NM_152384.3
p.T122N
c.365C>A
1 paper
NM_152384.3
p.V127delFs
c.379delG
1 paper
NM_152384.3
p.R129Splc
c.386+1G>T
1 paper
NM_152384.3
p.I79insFs
c.236_237insG
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