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.A277V

c.830C>T

Surrounding Variants

1 paper

NM_002232.5

p.A276_A277del1

c.828_830delGCT

1 paper

NM_002232.5

p.G278R

c.832G>C

1 paper

NM_002232.5

p.A276V

c.827C>T

1 paper

NM_002232.5

p.G278G

c.834C>T

1 paper

NM_002232.5

p.N279K

c.837C>G

1 paper

NM_002232.5

p.N279K

c.837C>A

1 paper

NM_002232.5

p.S273insFs

c.817dupT

1 paper

NM_002232.5

p.S273A

c.817T>G

1 paper

NM_002232.5

p.Q271_D272del0

c.811_816del6

1 paper

NM_002232.5

p.D272N

c.814G>A

1 paper

NM_002232.5

p.G283R

c.847G>A

1 paper

NM_002232.5

p.G283insFs

c.847_848insGT