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.G97delFs

c.291delG

Surrounding Variants

1 paper

NM_002232.5

p.E98*

c.292G>T

1 paper

NM_002232.5

p.G97A

c.290G>C

1 paper

NM_002232.5

p.G97R

c.289G>C

1 paper

NM_002232.5

p.Q99*

c.295C>T

1 paper

NM_002232.5

p.Q99P

c.296A>C

2 papers

NM_002232.5

p.A96S

c.286G>T

1 paper

NM_002232.5

p.A96T

c.286G>A

1 paper

NM_002232.5

p.A95insFs

c.283_284insG

3 papers

NM_002232.5

p.A95insFs

c.283_284insGT

2 papers

NM_002232.5

p.A95T

c.283G>A

1 paper

NM_002232.5

p.C101F

c.302G>T

1 paper

NM_002232.5

p.C101*

c.303C>A