Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.F297S

CLCN1

645 papers

RefSeq Summary

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence ho...

Pfam Domains

Voltage_CLCaa 171–571UCSCVoltage gated chloride channel

Gene Aliases

HGNC Name

chloride voltage-gated channel 1

HGNC Alias Symbols

CLC1; ClC-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_000083.3
p.F297S
c.890T>C
Surrounding Variants
3 papers
NM_000083.3
p.F297Y
c.890T>A
1 paper
NM_000083.3
p.F297L
c.891T>A
1 paper
NM_000083.3
p.F297fs
c.889_890fs
1 paper
NM_000083.3
p.F297delFs
c.891delT
17 papers
NM_000083.3
p.A298T
c.892G>A
1 paper
NM_000083.3
p.V299I
c.895G>A
8 papers
NM_000083.3
p.V299L
c.895G>C
3 papers
NM_000083.3
p.V299A
c.896T>C
1 paper
NM_000083.3
p.V299G
c.896T>G
3 papers
NM_000083.3
p.R300R
c.898C>A
5 papers
NM_000083.3
p.R300W
c.898C>T
13 papers
NM_000083.3
p.R300Q
c.899G>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."