Varaico: Literature-Extracted Genetic Variants

Gene:KCNA7
Variant:p.I316M

KCNA7

43 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 15–106UCSCBTB/POZ domain
Ion_transaa 142–405UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 7

HGNC Alias Symbols

Kv1.7; HAK6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031886.3
p.I316M
c.948C>G
Surrounding Variants
1 paper
NM_031886.3
p.R310H
c.929G>A
1 paper
NM_031886.3
p.A333P
c.997G>C
1 paper
NM_031886.3
p.R337W
c.1009C>T
2 papers
NM_031886.3
p.P346S
c.1036C>T
1 paper
NM_031886.3
p.E347Q
c.1039G>C
1 paper
NM_031886.3
p.V353A
c.1058T>C
1 paper
NM_031886.3
p.T259T
c.777C>T
1 paper
NM_031886.3
p.A381V
c.1142C>T
1 paper
NM_031886.3
p.S233R
c.699C>G
1 paper
NM_031886.3
p.S233R
c.699C>A
1 paper
NM_031886.3
p.S233R
c.697A>C
1 paper
NM_031886.3
p.R227H
c.680G>A
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