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.E255_K257del3

c.763_770del9

Surrounding Variants

1 paper

NM_002233.4

p.T253delFs

c.758delG

2 papers

NM_002233.4

p.F249I

c.745T>A

1 paper

NM_002233.4

p.R270W

c.808C>T

1 paper

NM_002233.4

p.R240H

c.719G>A

1 paper

NM_002233.4

p.E280K

c.838G>A

1 paper

NM_002233.4

p.A283D

c.848C>A

1 paper

NM_002233.4

p.L232S

c.695T>C

1 paper

NM_002233.4

p.P285L

c.854C>T

1 paper

NM_002233.4

p.P285H

c.854C>A

1 paper

NM_002233.4

p.E286K

c.856G>A

1 paper

NM_002233.4

p.R225C

c.673C>T

1 paper

NM_002233.4

p.D222Y

c.664G>T