Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.I206_R207Splc

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
5 papers
NM_152384.3
p.I206_R207Splc
c.619-27T>G
Surrounding Variants
1 paper
NM_152384.3
p.I206_R207Splc
c.619-5T>G
8 papers
NM_152384.3
p.I206_R207Splc
c.619-1G>C
12 papers
NM_152384.3
p.R207H
c.620G>A
1 paper
NM_152384.3
p.I209T
c.626T>C
1 paper
NM_152384.3
p.K210K
c.630G>A
1 paper
NM_152384.3
p.K210N
c.630G>C
1 paper
NM_152384.3
p.K210N
c.630G>T
1 paper
NM_152384.3
p.E223_S224delFs
c.668_671del4
1 paper
NM_152384.3
p.E223fs
c.667_668fs
1 paper
NM_152384.3
p.S225insFs
c.673_674insAA
1 paper
NM_152384.3
p.Q227_S228Splc
c.682-2A>G
1 paper
NM_152384.3
p.Q227_S228Splc
c.682-1G>A
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