Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.V516A

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
13 papers
NM_002234.4
p.V516A
c.1547T>C
Surrounding Variants
1 paper
NM_002234.4
p.V516G
c.1547T>G
1 paper
NM_002234.4
p.V516I
c.1546G>A
1 paper
NM_002234.4
p.S517F
c.1550C>T
1 paper
NM_002234.4
p.I515V
c.1543A>G
4 papers
NM_002234.4
p.V514A
c.1541T>C
4 papers
NM_002234.4
p.V514I
c.1540G>A
1 paper
NM_002234.4
p.P513P
c.1539C>T
1 paper
NM_002234.4
p.F519L
c.1555T>C
1 paper
NM_002234.4
p.F519L
c.1557C>A
3 papers
NM_002234.4
p.P513A
c.1537C>G
1 paper
NM_002234.4
p.F519L
c.1557C>G
10 papers
NM_002234.4
p.V512A
c.1535T>C
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