Varaico: Literature-Extracted Genetic Variants

KCNA3

1,456 papers

RefSeq Summary

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

Pfam Domains

BTB_2aa 106–197UCSCBTB/POZ domain

Ion_transaa 233–491UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 3

HGNC Alias Symbols

Kv1.3; MK3; HLK3; HPCN3; RP11-284N8.3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002232.5

p.R114H

c.341G>A

Surrounding Variants

1 paper

NM_002232.5

p.R114C

c.340C>T

2 papers

NM_002232.5

p.R114G

c.340C>G

2 papers

NM_002232.5

p.L113Q

c.338T>A

2 papers

NM_002232.5

p.L113V

c.337C>G

1 paper

NM_002232.5

p.E116Q

c.346G>C

1 paper

NM_002232.5

p.G112A

c.335G>C

1 paper

NM_002232.5

p.E116D

c.348G>T

2 papers

NM_002232.5

p.E116D

c.348G>C

3 papers

NM_002232.5

p.E116E

c.348G>A

1 paper

NM_002232.5

p.S111C

c.332C>G

1 paper

NM_002232.5

p.Q118E

c.352C>G

1 paper

NM_002232.5

p.Q118H

c.354G>T