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.F547L

c.1641C>A

Surrounding Variants

1 paper

NM_002232.5

p.F547L

c.1641C>G

1 paper

NM_002232.5

p.F547insFs

c.1640_1641insA

1 paper

NM_002232.5

p.F547insFs

c.1639_1640insA

1 paper

NM_002232.5

p.F547L

c.1639T>C

1 paper

NM_002232.5

p.K548R

c.1643A>G

1 paper

NM_002232.5

p.Q544insFs

c.1630_1631ins5

1 paper

NM_002232.5

p.M537T

c.1610T>C

1 paper

NM_002232.5

p.G536fs

c.1606_1607fs

1 paper

NM_002232.5

p.N561K

c.1683T>G

1 paper

NM_002232.5

p.N561K

c.1683T>A

1 paper

NM_002232.5

p.E533K

c.1597G>A

1 paper

NM_002232.5

p.N567D

c.1699A>G