Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.L193P

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.L193P
c.578T>C
Surrounding Variants
1 paper
NM_002234.4
p.S192Y
c.575C>A
1 paper
NM_002234.4
p.D194E
c.582C>A
1 paper
NM_002234.4
p.D194E
c.582C>G
2 papers
NM_002234.4
p.N190K
c.570C>A
1 paper
NM_002234.4
p.N190K
c.570C>G
1 paper
NM_002234.4
p.N190N
c.570C>T
1 paper
NM_002234.4
p.N190S
c.569A>G
1 paper
NM_002234.4
p.A197_R201delFs
c.590_602del13
1 paper
NM_002234.4
p.A197V
c.590C>T
1 paper
NM_002234.4
p.V189A
c.566T>C
1 paper
NM_002234.4
p.P188R
c.563C>G
1 paper
NM_002234.4
p.P188A
c.562C>G
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