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

Selected Variant

2 papers

NM_012284.3

p.R506H

c.1517G>A

Surrounding Variants

1 paper

NM_012284.3

p.T501T

c.1503G>A

1 paper

NM_012284.3

p.R526C

c.1576C>T

1 paper

NM_012284.3

p.R537C

c.1609C>T

1 paper

NM_012284.3

p.F542L

c.1624T>C

1 paper

NM_012284.3

p.F542L

c.1626C>A

1 paper

NM_012284.3

p.F542L

c.1626C>G

1 paper

NM_012284.3

p.W546R

c.1636T>A

1 paper

NM_012284.3

p.W546R

c.1636T>C

1 paper

NM_012284.3

p.V548A

c.1643T>C

1 paper

NM_012284.3

p.E478D

c.1434G>C

1 paper

NM_012284.3

p.E478D

c.1434G>T

1 paper

NM_012284.3

p.Y410*

c.1230C>A