Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.R747R

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
1 paper
NM_004366.6
p.R747R
c.2241C>G
Surrounding Variants
3 papers
NM_004366.6
p.R747H
c.2240G>A
1 paper
NM_004366.6
p.K750*
c.2248A>T
10 papers
NM_004366.6
p.R753*
c.2257C>T
1 paper
NM_004366.6
p.A757_S758Splc
c.2271+8T>G
1 paper
NM_004366.6
p.S758N
c.2273G>A
2 papers
NM_004366.6
p.A760V
c.2279C>T
1 paper
NM_004366.6
p.E739_K740Splc
c.2217+63A>G
1 paper
NM_004366.6
p.E770_I771Splc
c.2311-90C>T
1 paper
NM_004366.6
p.E735*
c.2203G>T
1 paper
NM_004366.6
p.P734insFs
c.2201dupC
1 paper
NM_004366.6
p.F728delFs
c.2184delG
1 paper
NM_004366.6
p.F728_C729insFs
c.2184_2185insA
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