Varaico: Literature-Extracted Genetic Variants

Gene:CLCN3
Variant:p.S121R

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
1 paper
NM_001829.4
p.S121R
c.363T>A
Surrounding Variants
2 papers
NM_001829.4
p.K112fs
c.334_335fs
1 paper
NM_001829.4
p.K112_E113delFs
c.336_339del4
1 paper
NM_001829.4
p.I107M
c.321C>G
1 paper
NM_001829.4
p.Y167*
c.501C>A
1 paper
NM_001829.4
p.Y167*
c.501C>G
1 paper
NM_001829.4
p.W174insFs
c.520_521insT
1 paper
NM_001829.4
p.W193L
c.578G>T
1 paper
NM_001829.4
p.I197F
c.589A>T
1 paper
NM_001829.4
p.Q200E
c.598C>G
1 paper
NM_001829.4
p.A201S
c.601G>T
1 paper
NM_001829.4
p.E202_G203Splc
c.607-1G>C
1 paper
NM_001829.4
p.G203D
c.608G>A
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