Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R725W

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
5 papers
NM_004366.6
p.R725W
c.2173C>T
Surrounding Variants
1 paper
NM_004366.6
p.L724F
c.2170C>T
1 paper
NM_004366.6
p.S726S
c.2178C>T
1 paper
NM_004366.6
p.F728_C729insFs
c.2184_2185insA
1 paper
NM_004366.6
p.F728delFs
c.2184delG
3 papers
NM_004366.6
p.S719L
c.2156C>T
10 papers
NM_004366.6
p.E718D
c.2154G>T
10 papers
NM_004366.6
p.E718D
c.2154G>C
1 paper
NM_004366.6
p.P734insFs
c.2201dupC
31 papers
NM_004366.6
p.G715E
c.2144G>A
1 paper
NM_004366.6
p.E735*
c.2203G>T
1 paper
NM_004366.6
p.E739_K740Splc
c.2217+63A>G
1 paper
NM_004366.6
p.S712_P713delFs
c.2136_2137delGA
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