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.Q124*

c.370C>T

Surrounding Variants

2 papers

NM_002232.5

p.C123W

c.369C>G

1 paper

NM_002232.5

p.C123*

c.369C>A

1 paper

NM_002232.5

p.Q124L

c.371A>T

1 paper

NM_002232.5

p.C123S

c.368G>C

2 papers

NM_002232.5

p.F125I

c.373T>A

1 paper

NM_002232.5

p.C123S

c.367T>A

1 paper

NM_002232.5

p.F125C

c.374T>G

1 paper

NM_002232.5

p.F125Y

c.374T>A

2 papers

NM_002232.5

p.L122H

c.365T>A

1 paper

NM_002232.5

p.P126H

c.377C>A

1 paper

NM_002232.5

p.E127K

c.379G>A

1 paper

NM_002232.5

p.T121S

c.361A>T