Varaico: Literature-Extracted Genetic Variants

Gene:BSND
Variant:p.V45M

BSND

265 papers

RefSeq Summary

This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner e...

Pfam Domains

Barttinaa 27–251UCSCBartter syndrome, infantile, with sensorineural deafness (Barttin)

Gene Aliases

HGNC Name

barttin CLCNK type accessory subunit beta

HGNC Previous Symbol

DFNB73

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_057176.3
p.V45M
c.133G>A
Surrounding Variants
1 paper
NM_057176.3
p.V45V
c.135G>A
1 paper
NM_057176.3
p.G48insFs
c.143dupG
42 papers
NM_057176.3
p.G47R
c.139G>A
11 papers
NM_057176.3
p.V43I
c.127G>A
41 papers
NM_057176.3
p.G47R
c.139G>C
1 paper
NM_057176.3
p.G47W
c.139G>T
1 paper
NM_057176.3
p.G47E
c.140G>A
2 papers
NM_057176.3
p.S42N
c.125G>A
2 papers
NM_057176.3
p.G41S
c.121G>A
3 papers
NM_057176.3
p.G41R
c.121G>C
1 paper
NM_057176.3
p.M53K
c.158T>A
2 papers
NM_057176.3
p.T36N
c.107C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."