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.Q24R

c.71A>G

Surrounding Variants

1 paper

NM_002233.4

p.A22delFs

c.65_66delAG

1 paper

NM_002233.4

p.R26R

c.78G>A

1 paper

NM_002233.4

p.R28Q

c.83G>A

1 paper

NM_002233.4

p.R30Q

c.89G>A

1 paper

NM_002233.4

p.M17I

c.51G>T

1 paper

NM_002233.4

p.R32K

c.95G>A

2 papers

NM_002233.4

p.H16R

c.47A>G

1 paper

NM_002233.4

p.N14K

c.42C>G

3 papers

NM_002233.4

p.C13S

c.38G>C

3 papers

NM_002233.4

p.C13S

c.37T>A

1 paper

NM_002233.4

p.S36A

c.106T>G

1 paper

NM_002233.4

p.R37insFs

c.110_111insA