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

1 paper

NM_139318.5

p.N243K

c.729C>A

Surrounding Variants

1 paper

NM_139318.5

p.N243K

c.729C>G

1 paper

NM_139318.5

p.L248L

c.744G>A

1 paper

NM_139318.5

p.D251N

c.751G>A

1 paper

NM_139318.5

p.P233S

c.697C>T

1 paper

NM_139318.5

p.V254V

c.762G>A

1 paper

NM_139318.5

p.D255_I257del3

c.763_770del9

1 paper

NM_139318.5

p.V260F

c.778G>T

1 paper

NM_139318.5

p.D261A

c.782A>C

1 paper

NM_139318.5

p.D261E

c.783C>G

1 paper

NM_139318.5

p.D261E

c.783C>A

1 paper

NM_139318.5

p.I262T

c.785T>C

1 paper

NM_139318.5

p.T225P

c.673A>C