Varaico: Literature-Extracted Genetic Variants

Gene:CLCN3
Variant:p.V431I

CLCN3

99 papers

RefSeq Summary

This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a...

Pfam Domains

Voltage_CLCaa 221–622UCSCVoltage gated chloride channel
CBSaa 751–806UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel 3

HGNC Alias Symbols

CLC3; ClC-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001829.4
p.V431I
c.1291G>A
Surrounding Variants
1 paper
NM_001243374.2
p.I414V
c.1240A>G
1 paper
NM_001829.4
p.R418S
c.1252C>A
2 papers
NM_001829.4
p.R417Q
c.1250G>A
1 paper
NM_001829.4
p.A413V
c.1238C>T
1 paper
NM_001829.4
p.L450V
c.1348C>G
2 papers
NM_001829.4
p.S453R
c.1357A>C
2 papers
NM_001829.4
p.S453R
c.1359T>A
2 papers
NM_001829.4
p.S453R
c.1359T>G
1 paper
NM_001829.4
p.I456I
c.1368C>T
1 paper
NM_001829.4
p.W403*
c.1209G>A
1 paper
NM_001829.4
p.W403*
c.1208G>A
1 paper
NM_001243374.2
p.L375_W376delFs
c.1123_1126del4
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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."