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.P57_G58delFs

c.171_172delCG

Surrounding Variants

1 paper

NM_002232.5

p.G58V

c.173G>T

1 paper

NM_002232.5

p.G58A

c.173G>C

1 paper

NM_002232.5

p.P57_G58delins

c.171_172delinsAA

2 papers

NM_002232.5

p.P57P

c.171C>T

1 paper

NM_002232.5

p.P57L

c.170C>T

3 papers

NM_002232.5

p.H60Y

c.178C>T

1 paper

NM_002232.5

p.V56G

c.167T>G

1 paper

NM_002232.5

p.V56A

c.167T>C

1 paper

NM_002232.5

p.H60L

c.179A>T

2 papers

NM_002232.5

p.V56L

c.166G>C

1 paper

NM_002232.5

p.L61P

c.182T>C

2 papers

NM_002232.5

p.V55E

c.164T>A