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.L49M

c.145C>A

Surrounding Variants

1 paper

NM_002232.5

p.L49P

c.146T>C

1 paper

NM_002232.5

p.E48D

c.144G>C

1 paper

NM_002232.5

p.E48V

c.143A>T

1 paper

NM_002232.5

p.E48G

c.143A>G

1 paper

NM_002232.5

p.P50T

c.148C>A

1 paper

NM_002232.5

p.R47R

c.141C>A

1 paper

NM_002232.5

p.P50P

c.150G>A

1 paper

NM_002232.5

p.R47C

c.139C>T

1 paper

NM_002232.5

p.D52H

c.154G>C

1 paper

NM_002232.5

p.A45_G46insFs

c.135_136insC

1 paper

NM_002232.5

p.A45V

c.134C>T

1 paper

NM_002232.5

p.D52E

c.156C>G