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.M5L

c.13A>T

Surrounding Variants

1 paper

NM_002233.4

p.M5L

c.13A>C

1 paper

NM_002233.4

p.V6E

c.17T>A

2 papers

NM_002233.4

p.E2Q

c.4G>C

1 paper

NM_002233.4

p.E2K

c.4G>A

2 papers

NM_002233.4

p.E9Q

c.25G>C

1 paper

NM_002233.4

p.E9K

c.25G>A

3 papers

NM_002233.4

p.C13S

c.37T>A

3 papers

NM_002233.4

p.C13S

c.38G>C

1 paper

NM_002233.4

p.N14K

c.42C>G

2 papers

NM_002233.4

p.H16R

c.47A>G

1 paper

NM_002233.4

p.M17I

c.51G>T

1 paper

NM_002233.4

p.A22delFs

c.65_66delAG