Varaico: Literature-Extracted Genetic Variants

Gene:KCNF1
Variant:p.G276delFs

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.G276delFs
c.826delG
Surrounding Variants
1 paper
NM_002236.5
p.V268M
c.802G>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.I263delFs
c.787delA
1 paper
NM_002236.5
p.V289M
c.865G>A
1 paper
NM_002236.5
p.L252fs
c.754_755fs
1 paper
NM_002236.5
p.L252Fs
c.754_756delinsTTFs
1 paper
NM_002236.5
p.L252_M255delFs
c.755_764del10
1 paper
NM_002236.5
p.A251T
c.751G>A
1 paper
NM_002236.5
p.Y237_F250delFs
c.709_748del40
1 paper
NM_002236.5
p.Y315C
c.944A>G
1 paper
NM_002236.5
p.T234_R240insFs
c.701_720dup20
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