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
2 papers
NM_004366.6
p.Q676_V677Splc
c.2028+21C>T
Surrounding Variants
1 paper
NM_004366.6
p.Q676_V677Splc
c.2028+19A>G
1 paper
NM_004366.6
p.T668_S672del5
c.2002_2015del15
1 paper
NM_004366.6
p.S672P
c.2014T>C
9 papers
NM_004366.6
p.T668S
c.2003C>G
9 papers
NM_004366.6
p.T668S
c.2002A>T
3 papers
NM_004366.6
p.E664V
c.1991A>T
1 paper
NM_004366.6
p.P659S
c.1975C>T
6 papers
NM_004366.6
p.Q676_V677Splc
c.2029-3C>T
1 paper
NM_004366.6
p.T657I
c.1970C>T
1 paper
NM_004366.6
p.T679S
c.2035A>T
3 papers
NM_004366.6
p.R653T
c.1958G>C
1 paper
NM_004366.6
p.R653*
c.1957A>T
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