Varaico: Literature-Extracted Genetic Variants

Gene:CLCN3
Variant:p.Y85C

CLCN3

99 papers

RefSeq Summary

This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a...

Pfam Domains

Voltage_CLCaa 221–622UCSCVoltage gated chloride channel
CBSaa 751–806UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel 3

HGNC Alias Symbols

CLC3; ClC-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001829.4
p.Y85C
c.254A>G
Surrounding Variants
1 paper
NM_001829.4
p.D87E
c.261T>A
1 paper
NM_001829.4
p.D87E
c.261T>G
1 paper
NM_001829.4
p.H89D
c.265C>G
1 paper
NM_001829.4
p.H89L
c.266A>T
1 paper
NM_001829.4
p.P80S
c.238C>T
1 paper
NM_001243374.2
p.P51insFs
c.152_153insC
1 paper
NM_001829.4
p.R95*
c.283C>T
1 paper
NM_001829.4
p.R95Q
c.284G>A
1 paper
NM_001243374.2
p.R79R
c.237G>A
1 paper
NM_001243374.2
p.T33insFs
c.98_99insG
1 paper
NM_001829.4
p.I107M
c.321C>G
1 paper
NM_001829.4
p.K112_E113delFs
c.336_339del4
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