Varaico: Literature-Extracted Genetic Variants

Gene:KCNH4
Variant:p.R660Q

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.R660Q
c.1979G>A
Surrounding Variants
1 paper
NM_012285.3
p.R677Q
c.2030G>A
1 paper
NM_012285.3
p.G631V
c.1892G>T
1 paper
NM_012285.3
p.G620E
c.1859G>A
1 paper
NM_012285.3
p.V596V
c.1788C>T
1 paper
NM_012285.3
p.R586H
c.1757G>A
1 paper
NM_012285.3
p.E581K
c.1741G>A
1 paper
NM_012285.3
p.G558R
c.1672G>C
1 paper
NM_012285.3
p.G558R
c.1672G>A
1 paper
NM_012285.3
p.R533H
c.1598G>A
1 paper
NM_012285.3
p.A728delFs
c.2184delG
1 paper
NM_012285.3
p.P747A
c.2239C>G
1 paper
NM_012285.3
p.V759A
c.2276T>C
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