Varaico: Literature-Extracted Genetic Variants

Gene:KCNA7

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
1–12 of 36 variants
3 papers
NM_031886.3
p.A180V
c.539C>T
3 papers
NM_031886.3
p.P443del1
c.1327_1328delTGG
2 papers
NM_031886.3
p.P189R
c.566C>G
2 papers
NM_031886.3
p.P204L
c.611C>T
2 papers
NM_031886.3
p.P346S
c.1036C>T
2 papers
NM_031886.3
p.M418T
c.1253T>C
2 papers
NM_031886.3
p.P442del1
c.1324_1325delAGG
1 paper
NM_031886.3
p.L15M
c.43C>A
1 paper
NM_031886.3
p.V16G
c.47T>G
1 paper
NM_031886.3
p.V19A
c.56T>C
1 paper
NM_031886.3
p.R23C
c.67C>T
1 paper
NM_031886.3
p.D41Y
c.121G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."