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.E150K

c.448G>A

Surrounding Variants

1 paper

NM_002233.4

p.D155D

c.465T>C

1 paper

NM_002233.4

p.E137*

c.409G>T

1 paper

NM_002233.4

p.G163S

c.487G>A

1 paper

NM_002233.4

p.E126D

c.378A>C

1 paper

NM_002233.4

p.E126G

c.377A>G

1 paper

NM_002233.4

p.E123*

c.367G>T

1 paper

NM_002233.4

p.E123K

c.367G>A

1 paper

NM_002233.4

p.R177S

c.529C>A

1 paper

NM_002233.4

p.E120A

c.359A>C

1 paper

NM_002233.4

p.R119K

c.356G>A

1 paper

NM_002233.4

p.V182V

c.546G>C

2 papers

NM_002233.4

p.V182V

c.546G>A