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.V106L

c.316G>T

Surrounding Variants

1 paper

NM_002232.5

p.R105_V106insFs

c.315_316insC

2 papers

NM_002232.5

p.V106A

c.317T>C

2 papers

NM_002232.5

p.R105P

c.314G>C

2 papers

NM_002232.5

p.R105C

c.313C>T

1 paper

NM_002232.5

p.R105S

c.313C>A

1 paper

NM_002232.5

p.E104Q

c.310G>C

2 papers

NM_002232.5

p.E104K

c.310G>A

1 paper

NM_002232.5

p.G103E

c.308G>A

1 paper

NM_002232.5

p.N109K

c.327C>A

1 paper

NM_002232.5

p.C102G

c.304T>G

1 paper

NM_002232.5

p.C101*

c.303C>A

1 paper

NM_002232.5

p.C101F

c.302G>T