Varaico: Literature-Extracted Genetic Variants

Gene:KCNH4
Variant:p.A970V

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.A970V
c.2909C>T
Surrounding Variants
1 paper
NM_012285.3
p.T964T
c.2892C>A
1 paper
NM_012285.3
p.S1011Y
c.3032C>A
1 paper
NM_012285.3
p.T1015M
c.3044C>T
1 paper
NM_012285.3
p.H1017Y
c.3049C>T
1 paper
NM_012285.3
p.S921P
c.2761T>C
1 paper
NM_012285.3
p.G920D
c.2759G>A
1 paper
NM_012285.3
p.E874K
c.2620G>A
1 paper
NM_012285.3
p.A870V
c.2609C>T
1 paper
NM_012285.3
p.I831T
c.2492T>C
1 paper
NM_012285.3
p.R826Splc
c.2477+75C>T
1 paper
NM_012285.3
p.P813L
c.2438C>T
1 paper
NM_012285.3
p.R800fs
c.2398_2399fs
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