Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.Q676_V677Splc

CLCN2

332 papers

RefSeq Summary

This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of cert...

Pfam Domains

Voltage_CLCaa 142–546UCSCVoltage gated chloride channel

Gene Aliases

HGNC Name

chloride voltage-gated channel 2

HGNC Alias Symbols

CLC2; EJM6; ClC-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_004366.6
p.Q676_V677Splc
c.2029-3C>T
Surrounding Variants
1 paper
NM_004366.6
p.T679S
c.2035A>T
1 paper
NM_001171088.3
p.R644W
c.1930C>T
7 papers
NM_004366.6
p.R688G
c.2062C>G
9 papers
NM_004366.6
p.R688Q
c.2063G>A
1 paper
NM_004366.6
p.G689R
c.2065G>C
1 paper
NM_004366.6
p.G689R
c.2065G>A
1 paper
NM_004366.6
p.G689E
c.2066G>A
3 papers
NM_004366.6
p.E690*
c.2068G>T
1 paper
NM_004366.6
p.E690K
c.2068G>A
2 papers
NM_004366.6
p.Q676_V677Splc
c.2028+21C>T
1 paper
NM_004366.6
p.Q676_V677Splc
c.2028+19A>G
1 paper
NM_004366.6
p.R707G
c.2119A>G
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