Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R597W

KCNA5

333 papers

RefSeq Summary

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

Pfam Domains

BTB_2aa 122–213UCSCBTB/POZ domain
Ion_transaa 249–527UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 5

HGNC Alias Symbols

Kv1.5; HPCN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002234.4
p.R597W
c.1789C>T
Surrounding Variants
2 papers
NM_002234.4
p.R597Q
c.1790G>A
1 paper
NM_002234.4
p.V594M
c.1780G>A
1 paper
NM_002234.4
p.K591R
c.1772A>G
1 paper
NM_002234.4
p.A590V
c.1769C>T
1 paper
NM_002234.4
p.C604S
c.1810T>A
1 paper
NM_002234.4
p.C604S
c.1811G>C
1 paper
NM_002234.4
p.A590_A602del13
c.1768_1805del39
2 papers
NM_002234.4
p.V588I
c.1762G>A
1 paper
NM_002234.4
p.D606A
c.1817A>C
1 paper
NM_002234.4
p.T607S
c.1819A>T
1 paper
NM_002234.4
p.T607S
c.1820C>G
1 paper
NM_002234.4
p.C586S
c.1757G>C
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