Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.F468S

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
2 papers
NM_000083.3
p.F468S
c.1403T>C
Surrounding Variants
1 paper
NM_000083.3
p.F468fs
c.1402_1403fs
1 paper
NM_000083.3
p.W469*
c.1406G>A
1 paper
NM_000083.3
p.W469*
c.1407G>A
4 papers
NM_000083.3
p.M470V
c.1408A>G
12 papers
NM_000083.3
p.S471F
c.1412C>T
2 papers
NM_000083.3
p.K467_F468Splc
c.1402-9C>T
1 paper
NM_000083.3
p.V473M
c.1417G>A
1 paper
NM_000083.3
p.V473E
c.1418T>A
1 paper
NM_000083.3
p.T476S
c.1426A>T
1 paper
NM_000083.3
p.T476S
c.1427C>G
1 paper
NM_000083.3
p.K467_F468Splc
c.1402-28G>A
1 paper
NM_000083.3
p.I479fs
c.1435_1436fs
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