Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.Q227_S228Splc

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.Q227_S228Splc
c.682-1G>A
Surrounding Variants
1 paper
NM_152384.3
p.Q227_S228Splc
c.682-2A>G
1 paper
NM_152384.3
p.K236_I237insG
c.706_710ins3
1 paper
NM_152384.3
p.P239S
c.715C>T
5 papers
NM_152384.3
p.E245_K248delFs
c.734_744del11
4 papers
NM_152384.3
p.E245fs
c.733_734fs
1 paper
NM_152384.3
p.E245G
c.734A>G
1 paper
NM_152384.3
p.K248delFs
c.743_744delAG
2 papers
NM_152384.3
p.N251D
c.751A>G
1 paper
NM_152384.3
p.L253F
c.757C>T
1 paper
NM_152384.3
p.I262M
c.786A>G
5 papers
NM_152384.3
p.G264R
c.790G>A
3 papers
NM_152384.3
p.G264R
c.790G>C
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