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

1–12 of 167 variants

3 papers

NM_002233.4

p.C13S

c.37T>A

3 papers

NM_002233.4

p.C13S

c.38G>C

3 papers

NM_002233.4

p.R68H

c.203G>A

3 papers

NM_002233.4

p.R89Q

c.266G>A

2 papers

NM_002233.4

p.E2Q

c.4G>C

2 papers

NM_002233.4

p.E9Q

c.25G>C

2 papers

NM_002233.4

p.H16R

c.47A>G

2 papers

NM_002233.4

p.S61F

c.182C>T

2 papers

NM_002233.4

p.R87Q

c.260G>A

2 papers

NM_002233.4

p.V182V

c.546G>A

2 papers

NM_002233.4

p.T200A

c.598A>G

2 papers

NM_002233.4

p.F249I

c.745T>A