Varaico: Literature-Extracted Genetic Variants

Gene:KCNH4
Variant:p.R800fs

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.R800fs
c.2398_2399fs
Surrounding Variants
2 papers
NM_012285.3
p.P799delFs
c.2397delG
1 paper
NM_012285.3
p.R800fs
c.2398_2399fs
1 paper
NM_012285.3
p.G797fs
c.2389_2390fs
1 paper
NM_012285.3
p.P813L
c.2438C>T
1 paper
NM_012285.3
p.V759A
c.2276T>C
1 paper
NM_012285.3
p.R826Splc
c.2477+75C>T
1 paper
NM_012285.3
p.P747A
c.2239C>G
1 paper
NM_012285.3
p.A728delFs
c.2184delG
1 paper
NM_012285.3
p.I831T
c.2492T>C
1 paper
NM_012285.3
p.A870V
c.2609C>T
1 paper
NM_012285.3
p.E874K
c.2620G>A
1 paper
NM_012285.3
p.R677Q
c.2030G>A
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