Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.H873Y

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
5 papers
NM_000083.3
p.H873Y
c.2617C>T
Surrounding Variants
1 paper
NM_000083.3
p.G872E
c.2615G>A
2 papers
NM_000083.3
p.K875*
c.2623A>T
1 paper
NM_000083.3
p.E871*
c.2611G>T
1 paper
NM_000083.3
p.I870T
c.2609T>C
1 paper
NM_000083.3
p.K868E
c.2602A>G
6 papers
NM_000083.3
p.Q879*
c.2635C>T
1 paper
NM_000083.3
p.Q867*
c.2599C>T
2 papers
NM_000083.3
p.E865_L866Splc
c.2596-1G>A
7 papers
NM_000083.3
p.P883T
c.2647C>A
1 paper
NM_000083.3
p.P883insFs
c.2647_2648insA
1 paper
NM_000083.3
p.L884_A885ins1
c.2652_2653insCTT
1 paper
NM_000083.3
p.E865_L866Splc
c.2596-11C>G
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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."