Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.A397T

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.A397T
c.1189G>A
Surrounding Variants
1 paper
NM_002234.4
p.A397V
c.1190C>T
1 paper
NM_002234.4
p.S395C
c.1184C>G
1 paper
NM_002234.4
p.L399F
c.1195C>T
1 paper
NM_002234.4
p.R400G
c.1198C>G
1 paper
NM_002234.4
p.R400Q
c.1199G>A
2 papers
NM_002234.4
p.R403L
c.1208G>T
1 paper
NM_002234.4
p.L404V
c.1210C>G
3 papers
NM_002234.4
p.G387S
c.1159G>A
1 paper
NM_002234.4
p.G386C
c.1156G>T
2 papers
NM_002234.4
p.G385E
c.1154G>A
1 paper
NM_002234.4
p.R409C
c.1225C>T
1 paper
NM_002234.4
p.G385R
c.1153G>A
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