Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.M430I

KCNC1

187 papers

RefSeq Summary

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in ...

Pfam Domains

BTB_2aa 10–104UCSCBTB/POZ domain
Ion_transaa 189–447UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily C member 1

HGNC Alias Symbol

Kv3.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001112741.2
p.M430I
c.1290G>C
Surrounding Variants
3 papers
NM_001112741.2
p.M430I
c.1290G>A
3 papers
NM_001112741.2
p.M430I
c.1290G>T
1 paper
NM_001112741.2
p.M430L
c.1288A>C
1 paper
NM_001112741.2
p.M430L
c.1288A>T
7 papers
NM_001112741.2
p.V432M
c.1294G>A
1 paper
NM_001112741.2
p.I428V
c.1282A>G
1 paper
NM_001112741.2
p.V434I
c.1300G>A
3 papers
NM_001112741.2
p.V434L
c.1300G>C
5 papers
NM_001112741.2
p.V425M
c.1273G>A
19 papers
NM_001112741.2
p.A421V
c.1262C>T
1 paper
NM_001112741.2
p.M441L
c.1321A>C
1 paper
NM_001112741.2
p.M441L
c.1321A>T
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