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.I327M

c.981C>G

Surrounding Variants

1 paper

NM_002232.5

p.I327V

c.979A>G

1 paper

NM_002232.5

p.R325Q

c.974G>A

2 papers

NM_002232.5

p.L330V

c.988C>G

1 paper

NM_002232.5

p.R325G

c.973C>G

1 paper

NM_002232.5

p.I331T

c.992T>C

1 paper

NM_002232.5

p.D332_I333insFs

c.996_997insGC

1 paper

NM_002232.5

p.I333T

c.998T>C

2 papers

NM_002232.5

p.T322A

c.964A>G

1 paper

NM_002232.5

p.V334M

c.1000G>A

1 paper

NM_002232.5

p.A321V

c.962C>T

1 paper

NM_002232.5

p.A321T

c.961G>A

1 paper

NM_002232.5

p.A335T

c.1003G>A