Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.N184S

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
27 papers
NM_152384.3
p.N184S
c.551A>G
Surrounding Variants
1 paper
NM_152384.3
p.N184ins0
c.550_552dupAAT
1 paper
NM_152384.3
p.V185A
c.554T>C
4 papers
NM_152384.3
p.T183A
c.547A>G
1 paper
NM_152384.3
p.I187insFs
c.559_560insGA
1 paper
NM_152384.3
p.I187T
c.560T>C
1 paper
NM_152384.3
p.F181fs
c.541_542fs
1 paper
NM_152384.3
p.F180fs
c.538_539fs
2 papers
NM_152384.3
p.F180delFs
c.538delT
3 papers
NM_152384.3
p.G178R
c.532G>A
3 papers
NM_152384.3
p.G178R
c.532G>C
1 paper
NM_152384.3
p.N192D
c.574A>G
1 paper
NM_152384.3
p.M193T
c.578T>C
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