Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.G898R

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.G898R
c.2692G>C
Surrounding Variants
3 papers
NM_000083.3
p.G898R
c.2692G>A
1 paper
NM_000083.3
p.T897T
c.2691C>T
1 paper
NM_000083.3
p.S896R
c.2688T>A
1 paper
NM_000083.3
p.S896R
c.2688T>G
1 paper
NM_000083.3
p.S896R
c.2686A>C
146 papers
NM_000083.3
p.R894*
c.2680C>T
1 paper
NM_000083.3
p.S902A
c.2704T>G
1 paper
NM_000083.3
p.T893A
c.2677A>G
1 paper
NM_000083.3
p.S903A
c.2707T>G
1 paper
NM_000083.3
p.S903S
c.2709T>C
1 paper
NM_000083.3
p.S892P
c.2674T>C
1 paper
NM_000083.3
p.S892A
c.2674T>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."