Varaico: Literature-Extracted Genetic Variants

Gene:BBS5
Variant:p.M1L

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
3 papers
NM_152384.3
p.M1L
c.1A>C
Surrounding Variants
1 paper
NM_152384.3
p.M1V
c.1A>G
6 papers
NM_152384.3
p.M1L
c.1A>T
13 papers
NM_152384.3
p.M1K
c.2T>A
2 papers
NM_152384.3
p.M1T
c.2T>C
1 paper
NM_152384.3
p.L7insFs
c.20dupT
1 paper
NM_152384.3
p.W8_E9Fs
c.22_27delinsAGACAGAGACAFs
3 papers
NM_152384.3
p.E9K
c.25G>A
1 paper
NM_152384.3
p.R14P
c.41G>C
1 paper
NM_152384.3
p.D16N
c.46G>A
1 paper
NM_152384.3
p.S18insFs
c.54dupC
1 paper
NM_152384.3
p.A19fs
c.55_56fs
1 paper
NM_152384.3
p.M22K
c.65T>A
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