Varaico: Literature-Extracted Genetic Variants

KCNA3

1,456 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

BTB_2aa 106–197UCSCBTB/POZ domain

Ion_transaa 233–491UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 3

HGNC Alias Symbols

Kv1.3; MK3; HLK3; HPCN3; RP11-284N8.3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002232.5

p.R367delFs

c.1099delG

Surrounding Variants

2 papers

NM_002232.5

p.R367H

c.1100G>A

1 paper

NM_002232.5

p.R367fs

c.1099_1100fs

9 papers

NM_002232.5

p.V369I

c.1105G>A

1 paper

NM_002232.5

p.V369A

c.1106T>C

1 paper

NM_002232.5

p.R364G

c.1090A>G

1 paper

NM_002232.5

p.V371_F372insFs

c.1113_1114insT

1 paper

NM_002232.5

p.F372L

c.1114T>C

1 paper

NM_002232.5

p.F372L

c.1116C>G

1 paper

NM_002232.5

p.F372L

c.1116C>A

2 papers

NM_002232.5

p.A361T

c.1081G>A

1 paper

NM_002232.5

p.I374S

c.1121T>G

1 paper

NM_002232.5

p.L360P

c.1079T>C