Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.S4P

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.S4P
c.10T>C
Surrounding Variants
1 paper
NM_000083.3
p.S4delins
c.10delinsG
1 paper
NM_000083.3
p.Q3Q
c.9A>G
1 paper
NM_000083.3
p.S4C
c.11C>G
1 paper
NM_000083.3
p.R5W
c.13C>T
1 paper
NM_000083.3
p.E2Fs
c.5delinsAGFs
1 paper
NM_000083.3
p.E2ins1
c.5_6insGCA
1 paper
NM_000083.3
p.E2ins1
c.4_5insGCA
1 paper
NM_000083.3
p.M1I
c.3G>A
2 papers
NM_000083.3
p.M1K
c.2T>A
2 papers
NM_000083.3
p.M1T
c.2T>C
1 paper
NM_000083.3
p.M1insFs
c.3dupG
1 paper
NM_000083.3
p.M1insFs
c.2dupT
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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."