Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.T517M

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.T517M
c.1550C>T
Surrounding Variants
1 paper
NM_004366.6
p.S516fs
c.1546_1547fs
1 paper
NM_004366.6
p.V519A
c.1556T>C
2 papers
NM_004366.6
p.T514_V515delFs
c.1542_1543delCT
2 papers
NM_004366.6
p.V521M
c.1561G>A
1 paper
NM_004366.6
p.E523K
c.1567G>A
1 paper
NM_004366.6
p.L524I
c.1570C>A
3 papers
NM_004366.6
p.A510V
c.1529C>T
1 paper
NM_004366.6
p.T525I
c.1574C>T
1 paper
NM_004366.6
p.A506T
c.1516G>A
1 paper
NM_004366.6
p.A505T
c.1513G>A
1 paper
NM_004366.6
p.I531V
c.1591A>G
9 papers
NM_004366.6
p.G503R
c.1507G>C
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."