Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.R138L

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.R138L
c.413G>T
Surrounding Variants
9 papers
NM_152384.3
p.R138H
c.413G>A
1 paper
NM_152384.3
p.R138P
c.413G>C
3 papers
NM_152384.3
p.R138C
c.412C>T
1 paper
NM_152384.3
p.S134delFs
c.402delT
6 papers
NM_152384.3
p.L142*
c.425T>A
7 papers
NM_152384.3
p.L142*
c.425T>G
1 paper
NM_152384.3
p.R143delFs
c.428delG
1 paper
NM_152384.3
p.R143fs
c.427_428fs
1 paper
NM_152384.3
p.R129Splc
c.387-1G>C
1 paper
NM_152384.3
p.R129Splc
c.387-2A>G
1 paper
NM_152384.3
p.P156_Q157delFs
c.468_471del4
1 paper
NM_152384.3
p.V160delFs
c.478_479delGT
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