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

3 papers

NM_139318.5

p.R673W

c.2017C>T

Surrounding Variants

1 paper

NM_139318.5

p.A657G

c.1970C>G

1 paper

NM_139318.5

p.T654A

c.1960A>G

1 paper

NM_139318.5

p.F652V

c.1954T>G

1 paper

NM_139318.5

p.E644G

c.1931A>G

1 paper

NM_139318.5

p.E644*

c.1930G>T

2 papers

NM_139318.5

p.Y635_C636delFs

c.1903_1907del5

1 paper

NM_139318.5

p.A628S

c.1882G>T

1 paper

NM_139318.5

p.I616T

c.1847T>C