Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.C546_F547Fs

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
1 paper
NM_000083.3
p.C546_F547Fs
c.1636_1639delinsAACGGGFs
Surrounding Variants
1 paper
NM_000083.3
p.C546S
c.1636T>A
1 paper
NM_000083.3
p.C546S
c.1637G>C
1 paper
NM_000083.3
p.F547Fs
c.1639delinsAACGGGFs
7 papers
NM_000083.3
p.E548K
c.1642G>A
2 papers
NM_000083.3
p.V544M
c.1630G>A
1 paper
NM_000083.3
p.E548D
c.1644A>C
1 paper
NM_000083.3
p.E548D
c.1644A>T
1 paper
NM_000083.3
p.T550A
c.1648A>G
10 papers
NM_000083.3
p.T550R
c.1649C>G
26 papers
NM_000083.3
p.T550M
c.1649C>T
2 papers
NM_000083.3
p.T550T
c.1650G>A
1 paper
NM_000083.3
p.T550T
c.1650G>T
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