Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.A793T

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.A793T
c.2377G>A
Surrounding Variants
1 paper
NM_004366.6
p.P794S
c.2380C>T
2 papers
NM_004366.6
p.Q796*
c.2386C>T
1 paper
NM_004366.6
p.T801I
c.2402C>T
1 paper
NM_004366.6
p.L779L
c.2335C>T
1 paper
NM_004366.6
p.E770_I771Splc
c.2311-90C>T
2 papers
NM_004366.6
p.A760V
c.2279C>T
1 paper
NM_004366.6
p.S758N
c.2273G>A
1 paper
NM_004366.6
p.A757_S758Splc
c.2271+8T>G
10 papers
NM_004366.6
p.R753*
c.2257C>T
1 paper
NM_004366.6
p.K750*
c.2248A>T
1 paper
NM_004366.6
p.R747R
c.2241C>G
3 papers
NM_004366.6
p.R747H
c.2240G>A
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