Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.H389Splc

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.H389Splc
c.1167-5T>G
Surrounding Variants
13 papers
NM_000083.3
p.H389Splc
c.1167-10T>C
1 paper
NM_000083.3
p.H389Splc
c.1167-10T>G
2 papers
NM_000083.3
p.H389Splc
c.1167-16T>G
1 paper
NM_000083.3
p.P394S
c.1180C>T
3 papers
NM_000083.3
p.G395_I396delFs
c.1183_1187del5
1 paper
NM_000083.3
p.P394P
c.1182T>G
1 paper
NM_000083.3
p.G395fs
c.1183_1184fs
1 paper
NM_000083.3
p.G395fs
c.1183_1184fs
3 papers
NM_000083.3
p.G395E
c.1184G>A
4 papers
NM_000083.3
p.V397D
c.1190T>A
2 papers
NM_000083.3
p.T398I
c.1193C>T
17 papers
NM_000083.3
p.A402V
c.1205C>T
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