Varaico: Literature-Extracted Genetic Variants

Gene:CLCN3
Variant:p.I607T

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
5 papers
NM_001829.4
p.I607T
c.1820T>C
Surrounding Variants
1 paper
NM_001829.4
p.M611I
c.1833G>A
1 paper
NM_001829.4
p.M611I
c.1833G>C
1 paper
NM_001829.4
p.M611I
c.1833G>T
1 paper
NM_001829.4
p.E599A
c.1796A>C
1 paper
NM_001829.4
p.E599V
c.1796A>T
1 paper
NM_001829.4
p.F598del1
c.1792_1793delTTT
1 paper
NM_001829.4
p.E631A
c.1892A>C
1 paper
NM_001829.4
p.P640A
c.1918C>G
1 paper
NM_001829.4
p.V677V
c.2031G>A
1 paper
NM_001243374.2
p.D651A
c.1952A>C
1 paper
NM_001829.4
p.D679G
c.2036A>G
1 paper
NM_001829.4
p.T687I
c.2060C>T
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