Varaico: Literature-Extracted Genetic Variants

KCNA4

175 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

K_channel_TIDaa 1–74UCSCPotassium channel Kv1.4 tandem inactivation domain

BTB_2aa 178–269UCSCBTB/POZ domain

Ion_transaa 306–571UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 4

HGNC Previous Symbol

KCNA4L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002233.4

p.T200A

c.598A>G

Surrounding Variants

1 paper

NM_002233.4

p.L201M

c.601T>A

1 paper

NM_002233.4

p.A195_F197del3

c.583_590del9

1 paper

NM_002233.4

p.G203A

c.608G>C

1 paper

NM_002233.4

p.D204fs

c.610_611fs

1 paper

NM_002233.4

p.Q210H

c.630G>T

1 paper

NM_002233.4

p.D213A

c.638A>C

1 paper

NM_002233.4

p.R186C

c.556C>T

1 paper

NM_002233.4

p.R216C

c.646C>T

1 paper

NM_002233.4

p.R216H

c.647G>A

1 paper

NM_002233.4

p.V182V

c.546G>C

2 papers

NM_002233.4

p.V182V

c.546G>A

1 paper

NM_002233.4

p.Y219N

c.655T>A