Varaico: Literature-Extracted Genetic Variants

Gene:CLCN2
Variant:p.Y17*

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.Y17*
c.51C>A
Surrounding Variants
1 paper
NM_004366.6
p.Y17*
c.51C>G
1 paper
NM_004366.6
p.Y17H
c.49T>C
1 paper
NM_004366.6
p.E18V
c.53A>T
1 paper
NM_004366.6
p.Y17_Q19delFs
c.51_57del7
1 paper
NM_004366.6
p.T20T
c.60C>T
1 paper
NM_004366.6
p.P12_Q19delFs
c.36_57del22
9 papers
NM_004366.6
p.L21fs
c.61_62fs
1 paper
NM_004366.6
p.A14V
c.41C>T
11 papers
NM_004366.6
p.L21insFs
c.61dupC
1 paper
NM_004366.6
p.L21fs
c.61_62fs
1 paper
NM_004366.6
p.L21_M22Splc
c.63+3A>T
1 paper
NM_004366.6
p.E11insFs
c.33dupG
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