Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.I827M

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.I827M
c.2481T>G
Surrounding Variants
1 paper
NM_004366.6
p.V830L
c.2488G>C
1 paper
NM_004366.6
p.S822T
c.2465G>C
1 paper
NM_004366.6
p.L813delFs
c.2438delA
1 paper
NM_004366.6
p.L813fs
c.2437_2438fs
1 paper
NM_004366.6
p.L812M
c.2434C>A
1 paper
NM_004366.6
p.I809T
c.2426T>C
1 paper
NM_004366.6
p.I809V
c.2425A>G
1 paper
NM_004366.6
p.R836Q
c.2507G>A
1 paper
NM_004366.6
p.K805_T806Splc
c.2416-107G>T
1 paper
NM_004366.6
p.V848M
c.2542G>A
1 paper
NM_004366.6
p.R851W
c.2551C>T
1 paper
NM_004366.6
p.R851Q
c.2552G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."