Varaico: Literature-Extracted Genetic Variants

Gene:KCNH4
Variant:p.L111R

KCNH4

155 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

PAS_9aa 27–135UCSCPAS domain
Ion_transaa 226–486UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 4

HGNC Alias Symbol

Kv12.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012285.3
p.L111R
c.332T>G
Surrounding Variants
1 paper
NM_012285.3
p.S105L
c.314C>T
1 paper
NM_012285.3
p.K117R
c.350A>G
1 paper
NM_012285.3
p.E119Q
c.355G>C
1 paper
NM_012285.3
p.M120I
c.360G>T
1 paper
NM_012285.3
p.M120I
c.360G>C
1 paper
NM_012285.3
p.M120I
c.360G>A
1 paper
NM_012285.3
p.V123V
c.369C>G
1 paper
NM_012285.3
p.V123V
c.369C>A
1 paper
NM_012285.3
p.L127_F128ins1
c.381_382insATC
1 paper
NM_012285.3
p.Q135R
c.404A>G
1 paper
NM_012285.3
p.S136R
c.406A>C
1 paper
NM_012285.3
p.S136R
c.408T>G
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