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.G503E

c.1508G>A

Surrounding Variants

1 paper

NM_002232.5

p.G503R

c.1507G>C

1 paper

NM_002232.5

p.G503R

c.1507G>A

1 paper

NM_002232.5

p.C505S

c.1513T>A

1 paper

NM_002232.5

p.C505S

c.1514G>C

1 paper

NM_002232.5

p.Q506*

c.1516C>T

1 paper

NM_002232.5

p.H507R

c.1520A>G

1 paper

NM_002232.5

p.L508F

c.1522C>T

1 paper

NM_002232.5

p.Q498*

c.1492C>T

1 paper

NM_002232.5

p.L508L

c.1524C>A

1 paper

NM_002232.5

p.S497S

c.1491C>T

1 paper

NM_002232.5

p.S510C

c.1529C>G

1 paper

NM_002232.5

p.E495insFs

c.1484_1485insG