Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.R317Q

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
28 papers
NM_000083.3
p.R317Q
c.950G>A
Surrounding Variants
3 papers
NM_000083.3
p.R317L
c.950G>T
4 papers
NM_000083.3
p.R317*
c.949C>T
1 paper
NM_000083.3
p.V318E
c.953T>A
1 paper
NM_000083.3
p.L319R
c.956T>G
5 papers
NM_000083.3
p.A320V
c.959C>T
2 papers
NM_000083.3
p.V321M
c.961G>A
3 papers
NM_000083.3
p.V321L
c.961G>C
3 papers
NM_000083.3
p.V321L
c.961G>T
11 papers
NM_000083.3
p.A313V
c.938C>T
5 papers
NM_000083.3
p.V321E
c.962T>A
2 papers
NM_000083.3
p.V321A
c.962T>C
43 papers
NM_000083.3
p.A313T
c.937G>A
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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."