Varaico: Literature-Extracted Genetic Variants

Gene:KCNC1
Variant:p.R339*

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
9 papers
NM_001112741.2
p.R339*
c.1015C>T
Surrounding Variants
1 paper
NM_001112741.2
p.T337M
c.1010C>T
1 paper
NM_001112741.2
p.R332W
c.994C>T
1 paper
NM_001112741.2
p.T325P
c.973A>C
1 paper
NM_001112741.2
p.A353_L354del1
c.1058_1060delCCT
1 paper
NM_001112741.2
p.V356M
c.1066G>A
46 papers
NM_001112741.2
p.R320H
c.959G>A
5 papers
NM_001112741.2
p.R317H
c.950G>A
3 papers
NM_001112741.2
p.R317S
c.949C>A
1 paper
NM_001112741.2
p.M362L
c.1084A>C
1 paper
NM_001112741.2
p.M362L
c.1084A>T
1 paper
NM_001112741.2
p.I363V
c.1087A>G
1 paper
NM_001112741.2
p.R314H
c.941G>A
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