Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.G386C

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.G386C
c.1156G>T
Surrounding Variants
2 papers
NM_002234.4
p.G385E
c.1154G>A
3 papers
NM_002234.4
p.G387S
c.1159G>A
1 paper
NM_002234.4
p.G385R
c.1153G>A
1 paper
NM_002234.4
p.G385R
c.1153G>C
5 papers
NM_002234.4
p.G384R
c.1150G>A
5 papers
NM_002234.4
p.G384R
c.1150G>C
5 papers
NM_002234.4
p.G383G
c.1149T>C
1 paper
NM_002234.4
p.P381T
c.1141C>A
1 paper
NM_002234.4
p.P381_G382insATC
c.1141_1145ins9
1 paper
NM_002234.4
p.Q380E
c.1138C>G
1 paper
NM_002234.4
p.Q379P
c.1136A>C
1 paper
NM_002234.4
p.S395C
c.1184C>G
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