Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.P156_Q157delFs

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.P156_Q157delFs
c.468_471del4
Surrounding Variants
1 paper
NM_152384.3
p.V160delFs
c.478_479delGT
1 paper
NM_152384.3
p.D162N
c.484G>A
1 paper
NM_152384.3
p.K163_N165delFs
c.488_494del7
1 paper
NM_152384.3
p.N165H
c.493A>C
1 paper
NM_152384.3
p.V167ins2
c.500_501ins6
1 paper
NM_152384.3
p.R143delFs
c.428delG
1 paper
NM_152384.3
p.R143fs
c.427_428fs
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.S172delFs
c.515_516delGT
1 paper
NM_152384.3
p.S172N
c.515G>A
9 papers
NM_152384.3
p.R138H
c.413G>A
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