Varaico: Literature-Extracted Genetic Variants

Gene:KCNF1
Variant:p.M329I

KCNF1

76 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

BTB_2aa 25–126UCSCBTB/POZ domain
Ion_transaa 181–417UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel modifier subfamily F member 1

HGNC Alias Symbols

Kv5.1; kH1; IK8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002236.5
p.M329I
c.987G>A
Surrounding Variants
1 paper
NM_002236.5
p.M329I
c.987G>C
1 paper
NM_002236.5
p.M329I
c.987G>T
1 paper
NM_002236.5
p.A332E
c.995C>A
1 paper
NM_002236.5
p.Y315C
c.944A>G
1 paper
NM_002236.5
p.L353P
c.1058T>C
1 paper
NM_002236.5
p.S356N
c.1067G>A
1 paper
NM_002236.5
p.Q359_S360ins4
c.1075_1079ins12
1 paper
NM_002236.5
p.V289M
c.865G>A
1 paper
NM_002236.5
p.V285L
c.853G>C
1 paper
NM_002236.5
p.V285L
c.853G>T
1 paper
NM_002236.5
p.G374G
c.1122C>T
1 paper
NM_002236.5
p.G383S
c.1147G>A
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