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.I407M

c.1221T>G

Surrounding Variants

1 paper

NM_002233.4

p.T421I

c.1262C>T

1 paper

NM_002233.4

p.G420_T421del2

c.1258_1262del6

1 paper

NM_002233.4

p.Q427K

c.1279C>A

1 paper

NM_002233.4

p.V387M

c.1159G>A

1 paper

NM_002233.4

p.G429fs

c.1285_1286fs

1 paper

NM_002233.4

p.G429delFs

c.1286delC

1 paper

NM_002233.4

p.G432A

c.1295G>C

1 paper

NM_002233.4

p.Q434H

c.1302G>C

1 paper

NM_002233.4

p.V380L

c.1138G>T

1 paper

NM_002233.4

p.V380L

c.1138G>C

1 paper

NM_002233.4

p.A437D

c.1310C>A

2 papers

NM_002233.4

p.V377I

c.1129G>A