Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.S865R

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
12 papers
NM_004366.6
p.S865R
c.2595T>A
Surrounding Variants
12 papers
NM_004366.6
p.S865R
c.2595T>G
13 papers
NM_004366.6
p.S865R
c.2593A>C
2 papers
NM_004366.6
p.E868K
c.2602G>A
1 paper
NM_004366.6
p.E871Q
c.2611G>C
2 papers
NM_004366.6
p.R858Q
c.2573G>A
1 paper
NM_004366.6
p.R858*
c.2572C>T
1 paper
NM_004366.6
p.R851Q
c.2552G>A
1 paper
NM_004366.6
p.R851W
c.2551C>T
1 paper
NM_004366.6
p.V848M
c.2542G>A
1 paper
NM_004366.6
p.R836Q
c.2507G>A
1 paper
NM_004366.6
p.V830L
c.2488G>C
1 paper
NM_004366.6
p.I827M
c.2481T>G
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