Varaico: Literature-Extracted Genetic Variants

KCNH5

145 papers

RefSeq Summary

This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell vol...

Pfam Domains

PAS_9aa 26–133UCSCPAS domain

Ion_transaa 214–479UCSCIon transport protein

cNMP_bindingaa 568–653UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 5

HGNC Alias Symbols

Kv10.2; H-EAG2; eag2; hEAG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_139318.5

p.F67L

c.199T>C

Surrounding Variants

1 paper

NM_139318.5

p.S66Splc

c.198-10T>C

1 paper

NM_139318.5

p.G70G

c.210G>A

1 paper

NM_139318.5

p.F85_D86del1

c.255_257delTCA

1 paper

NM_139318.5

p.R102S

c.306A>T

1 paper

NM_139318.5

p.P104T

c.310C>A

1 paper

NM_139318.5

p.I138V

c.412A>G