Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.L430L

KCNA2

401 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 35–126UCSCBTB/POZ domain
Ion_transaa 162–421UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 2

HGNC Alias Symbols

Kv1.2; HK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004974.4
p.L430L
c.1288T>C
Surrounding Variants
1 paper
NM_004974.4
p.Y429F
c.1286A>T
1 paper
NM_004974.4
p.Q431*
c.1291C>T
1 paper
NM_004974.4
p.Q431E
c.1291C>G
1 paper
NM_004974.4
p.Q431Q
c.1293A>G
1 paper
NM_004974.4
p.Q428R
c.1283A>G
1 paper
NM_004974.4
p.T433S
c.1297A>T
3 papers
NM_004974.4
p.T433A
c.1297A>G
2 papers
NM_004974.4
p.Q426*
c.1276C>T
1 paper
NM_004974.4
p.E425fs
c.1273_1274fs
1 paper
NM_004974.4
p.C435S
c.1303T>A
1 paper
NM_004974.4
p.C435S
c.1304G>C
1 paper
NM_004974.4
p.C435Y
c.1304G>A
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