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.F149_D150del1

c.447_449delTCG

Surrounding Variants

1 paper

NM_002232.5

p.R151C

c.451C>T

1 paper

NM_002232.5

p.R151P

c.452G>C

1 paper

NM_002232.5

p.D150E

c.450C>G

2 papers

NM_002232.5

p.D150E

c.450C>A

2 papers

NM_002232.5

p.N152D

c.454A>G

1 paper

NM_002232.5

p.R151delFs

c.453delG

1 paper

NM_002232.5

p.F149ins1

c.446_447insAAC

3 papers

NM_002232.5

p.F149ins1

c.446_447insGAA

1 paper

NM_002232.5

p.R153W

c.457C>T

3 papers

NM_002232.5

p.R153Q

c.458G>A

1 paper

NM_002232.5

p.F148C

c.443T>G

2 papers

NM_002232.5

p.F148S

c.443T>C