Varaico: Literature-Extracted Genetic Variants

KCNH3

85 papers

RefSeq Summary

The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gen...

Pfam Domains

PAS_9aa 31–135UCSCPAS domain

Ion_transaa 224–512UCSCIon transport protein

cNMP_bindingaa 601–681UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 3

HGNC Alias Symbols

Kv12.2; BEC1; elk2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 103 variants

3 papers

NM_012284.3

p.S846P

c.2536T>C

3 papers

NM_012284.3

p.L938V

c.2812C>G

2 papers

NM_012284.3

p.A314V

c.941C>T

2 papers

NM_012284.3

p.A371V

c.1112C>T

2 papers

NM_012284.3

p.R506H

c.1517G>A

2 papers

NM_012284.3

p.T604M

c.1811C>T

2 papers

NM_012284.3

p.A981A

c.2943G>A

1 paper

NM_012284.3

p.P2S

c.4C>T

1 paper

NM_012284.3

p.H26Splc

c.76+1G>T

1 paper

NM_012284.3

p.A37V

c.110C>T

1 paper

NM_012284.3

p.T53M

c.158C>T

1 paper

NM_012284.3

p.R63W

c.187C>T