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.T523A

c.1567A>G

Surrounding Variants

1 paper

NM_002232.5

p.S520R

c.1560T>A

2 papers

NM_002232.5

p.S525N

c.1574G>A

1 paper

NM_002232.5

p.R519R

c.1557G>A

1 paper

NM_002232.5

p.R519G

c.1555A>G

1 paper

NM_002232.5

p.E528Q

c.1582G>C

1 paper

NM_002232.5

p.E513E

c.1539G>A

1 paper

NM_002232.5

p.E533K

c.1597G>A

1 paper

NM_002232.5

p.S510C

c.1529C>G

1 paper

NM_002232.5

p.G536fs

c.1606_1607fs

1 paper

NM_002232.5

p.M537T

c.1610T>C

1 paper

NM_002232.5

p.L508L

c.1524C>A

1 paper

NM_002232.5

p.L508F

c.1522C>T