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.A501V

c.1502C>T

Surrounding Variants

1 paper

NM_002233.4

p.P504H

c.1511C>A

1 paper

NM_002233.4

p.H507R

c.1520A>G

2 papers

NM_002233.4

p.L491F

c.1471C>T

1 paper

NM_002233.4

p.F484C

c.1451T>G

2 papers

NM_002233.4

p.R476Q

c.1427G>A

1 paper

NM_002233.4

p.A473V

c.1418C>T

1 paper

NM_002233.4

p.T470N

c.1409C>A

1 paper

NM_002233.4

p.T534A

c.1600A>G

1 paper

NM_002233.4

p.G536R

c.1606G>C

1 paper

NM_002233.4

p.G536R

c.1606G>A

1 paper

NM_002233.4

p.A545P

c.1633G>C

1 paper

NM_002233.4

p.A547insFs

c.1639_1640insA