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.A43P

c.127G>C

Surrounding Variants

1 paper

NM_002233.4

p.A46P

c.136G>C

1 paper

NM_002233.4

p.A39S

c.115G>T

1 paper

NM_002233.4

p.R37S

c.111G>T

1 paper

NM_002233.4

p.R37S

c.111G>C

1 paper

NM_002233.4

p.R37insFs

c.110_111insA

1 paper

NM_002233.4

p.A49P

c.145G>C

1 paper

NM_002233.4

p.A49V

c.146C>T

1 paper

NM_002233.4

p.S36A

c.106T>G

1 paper

NM_002233.4

p.E52*

c.154G>T

1 paper

NM_002233.4

p.E52K

c.154G>A

1 paper

NM_002233.4

p.G53D

c.158G>A

1 paper

NM_002233.4

p.R32K

c.95G>A