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.F486insFs

c.1457_1458insG

Surrounding Variants

1 paper

NM_002232.5

p.Y485C

c.1454A>G

1 paper

NM_002232.5

p.Y485S

c.1454A>C

1 paper

NM_002232.5

p.E490Q

c.1468G>C

3 papers

NM_002232.5

p.E490K

c.1468G>A

1 paper

NM_002232.5

p.E490D

c.1470G>T

1 paper

NM_002232.5

p.E490D

c.1470G>C

1 paper

NM_002232.5

p.S481F

c.1442C>T

2 papers

NM_002232.5

p.T491T

c.1473A>G

1 paper

NM_002232.5

p.G493R

c.1477G>C

1 paper

NM_002232.5

p.G493R

c.1477G>A

2 papers

NM_002232.5

p.V478A

c.1433T>C

1 paper

NM_002232.5

p.V478E

c.1433T>A