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.L160L

c.480C>G

Surrounding Variants

1 paper

NM_002232.5

p.L160L

c.480C>T

1 paper

NM_002232.5

p.L160H

c.479T>A

1 paper

NM_002232.5

p.Y162H

c.484T>C

1 paper

NM_002232.5

p.A158delFs

c.473delG

1 paper

NM_002232.5

p.A158V

c.473C>T

2 papers

NM_002232.5

p.Y163Y

c.489T>C

1 paper

NM_002232.5

p.D157A

c.470A>C

1 paper

NM_002232.5

p.Q164H

c.492G>C

1 paper

NM_002232.5

p.S165F

c.494C>T

2 papers

NM_002232.5

p.G166R

c.496G>C

2 papers

NM_002232.5

p.G166R

c.496G>A

1 paper

NM_002232.5

p.G166E

c.497G>A