Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.L884F

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
3 papers
NM_000083.3
p.L884F
c.2650C>T
Surrounding Variants
1 paper
NM_000083.3
p.L884_A885ins1
c.2652_2653insCTT
7 papers
NM_000083.3
p.P883T
c.2647C>A
1 paper
NM_000083.3
p.P883insFs
c.2647_2648insA
14 papers
NM_000083.3
p.A885P
c.2653G>C
1 paper
NM_000083.3
p.A885insFs
c.2654_2655insC
1 paper
NM_000083.3
p.S886R
c.2656A>C
2 papers
NM_000083.3
p.R888_S892delFs
c.2662_2675del14
1 paper
NM_000083.3
p.S886R
c.2658C>A
1 paper
NM_000083.3
p.S886R
c.2658C>G
1 paper
NM_000083.3
p.R888fs
c.2662_2663fs
1 paper
NM_000083.3
p.R888W
c.2662C>T
4 papers
NM_000083.3
p.N889insFs
c.2665_2666insA
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