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.P257T

c.769C>A

Surrounding Variants

1 paper

NM_002232.5

p.P257S

c.769C>T

1 paper

NM_002232.5

p.P257A

c.769C>G

1 paper

NM_002232.5

p.E258K

c.772G>A

1 paper

NM_002232.5

p.T255_P257del3

c.763_770del9

1 paper

NM_002232.5

p.F259L

c.777C>A

1 paper

NM_002232.5

p.R260S

c.778C>A

1 paper

NM_002232.5

p.R260P

c.779G>C

2 papers

NM_002232.5

p.R260H

c.779G>A

1 paper

NM_002232.5

p.C252C

c.756C>T

1 paper

NM_002232.5

p.D261A

c.782A>C

1 paper

NM_002232.5

p.D261E

c.783C>G

1 paper

NM_002232.5

p.D261E

c.783C>A