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

1 paper

NM_002233.4

p.R83Q

c.248G>A

Surrounding Variants

1 paper

NM_002233.4

p.R80L

c.239G>T

1 paper

NM_002233.4

p.R80W

c.238C>T

1 paper

NM_002233.4

p.R85_R86del1

c.255_257delCTC

2 papers

NM_002233.4

p.R87Q

c.260G>A

1 paper

NM_002233.4

p.R89W

c.265C>T

3 papers

NM_002233.4

p.R89Q

c.266G>A

1 paper

NM_002233.4

p.G69R

c.205G>C

1 paper

NM_002233.4

p.G69R

c.205G>A

3 papers

NM_002233.4

p.R68H

c.203G>A

1 paper

NM_002233.4

p.H65_Q66del2

c.193_197del6

1 paper

NM_002233.4

p.H65_Q66del1

c.195_197delTGG

2 papers

NM_002233.4

p.S61F

c.182C>T