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

2 papers

NM_002232.5

p.Y86D

c.256T>G

Surrounding Variants

3 papers

NM_002232.5

p.Y86N

c.256T>A

1 paper

NM_002232.5

p.R85H

c.254G>A

1 paper

NM_002232.5

p.Y86Y

c.258C>T

1 paper

NM_002232.5

p.R85_Y86del1

c.255_257delTAG

1 paper

NM_002232.5

p.R85C

c.253C>T

2 papers

NM_002232.5

p.D84V

c.251A>T

2 papers

NM_002232.5

p.P88S

c.262C>T

1 paper

NM_002232.5

p.P88L

c.263C>T

1 paper

NM_002232.5

p.P88insFs

c.263_264insCC

1 paper

NM_002232.5

p.C83Y

c.248G>A

1 paper

NM_002232.5

p.L89M

c.265C>A

1 paper

NM_002232.5

p.P90L

c.269C>T