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.V173D

c.518T>A

Surrounding Variants

1 paper

NM_002232.5

p.R171_P172del2

c.511_515del6

1 paper

NM_002232.5

p.P172P

c.516G>T

1 paper

NM_002232.5

p.V175L

c.523G>T

1 paper

NM_002232.5

p.V175L

c.523G>C

1 paper

NM_002232.5

p.R171Q

c.512G>A

1 paper

NM_002232.5

p.V175V

c.525G>C

1 paper

NM_002232.5

p.R171W

c.511C>T

1 paper

NM_002232.5

p.Y163_R170delFs

c.489_510del22

2 papers

NM_002232.5

p.R170C

c.508C>T

1 paper

NM_002232.5

p.I169insFs

c.506dupT

1 paper

NM_002232.5

p.I177V

c.529A>G

1 paper

NM_002232.5

p.I169S

c.506T>G