Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.P201S

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.P201S
c.601C>T
Surrounding Variants
1 paper
NM_004366.6
p.M200fs
c.598_599fs
8 papers
NM_004366.6
p.G199_M200insFs
c.597_598insG
3 papers
NM_004366.6
p.G199A
c.596G>C
1 paper
NM_004366.6
p.G203C
c.607G>T
1 paper
NM_004366.6
p.G203A
c.608G>C
2 papers
NM_004366.6
p.K204R
c.611A>G
1 paper
NM_004366.6
p.G197D
c.590G>A
1 paper
NM_004366.6
p.E205Q
c.613G>C
1 paper
NM_004366.6
p.A195T
c.583G>A
1 paper
NM_004366.6
p.T193S
c.578C>G
1 paper
NM_004366.6
p.T193S
c.577A>T
1 paper
NM_004366.6
p.G191E
c.572G>A
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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."