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.A193V

c.578C>T

Surrounding Variants

1 paper

NM_002232.5

p.A193D

c.578C>A

1 paper

NM_002232.5

p.E191_E192delFs

c.572_576del5

2 papers

NM_002232.5

p.E191D

c.573G>T

2 papers

NM_002232.5

p.E191D

c.573G>C

1 paper

NM_002232.5

p.E195_K196insFs

c.585_586insT

1 paper

NM_002232.5

p.E182_M194del13

c.544_581del39

1 paper

NM_002232.5

p.K196T

c.587A>C

1 paper

NM_002232.5

p.G190R

c.568G>C

3 papers

NM_002232.5

p.G190S

c.568G>A

1 paper

NM_002232.5

p.F197S

c.590T>C

1 paper

NM_002232.5

p.R198S

c.592C>A

1 paper

NM_002232.5

p.R198P

c.593G>C