Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.R894*

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
146 papers
NM_000083.3
p.R894*
c.2680C>T
Surrounding Variants
1 paper
NM_000083.3
p.T893A
c.2677A>G
1 paper
NM_000083.3
p.S896R
c.2686A>C
1 paper
NM_000083.3
p.S892P
c.2674T>C
1 paper
NM_000083.3
p.S892A
c.2674T>G
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.T891A
c.2671A>G
1 paper
NM_000083.3
p.T897T
c.2691C>T
1 paper
NM_000083.3
p.T890A
c.2668A>G
3 papers
NM_000083.3
p.G898R
c.2692G>A
3 papers
NM_000083.3
p.G898R
c.2692G>C
2 papers
NM_000083.3
p.N889S
c.2666A>G
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