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.F597L

c.1789T>C

Surrounding Variants

1 paper

NM_002233.4

p.F597L

c.1791T>G

1 paper

NM_002233.4

p.F597L

c.1791T>A

1 paper

NM_002233.4

p.R598Q

c.1793G>A

1 paper

NM_002233.4

p.S600A

c.1798T>G

1 paper

NM_002233.4

p.T601A

c.1801A>G

1 paper

NM_002233.4

p.S602A

c.1804T>G

2 papers

NM_002233.4

p.S602Y

c.1805C>A

1 paper

NM_002233.4

p.S603A

c.1807T>G

1 paper

NM_002233.4

p.S604A

c.1810T>G

1 paper

NM_002233.4

p.G606R

c.1816G>C

1 paper

NM_002233.4

p.G606R

c.1816G>A

1 paper

NM_002233.4

p.K608N

c.1824G>T