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.S946S

c.2838C>T

Surrounding Variants

1 paper

NM_139318.5

p.L931I

c.2791C>A

1 paper

NM_139318.5

p.Q964insFs

c.2890_2891insCC

2 papers

NM_139318.5

p.Q964fs

c.2890_2891fs

1 paper

NM_139318.5

p.P966S

c.2896C>T

1 paper

NM_139318.5

p.D969N

c.2905G>A

1 paper

NM_139318.5

p.E916K

c.2746G>A

1 paper

NM_139318.5

p.T909A

c.2725A>G

1 paper

NM_139318.5

p.E985*

c.2953G>T

1 paper

NM_139318.5

p.E985K

c.2953G>A

1 paper

NM_139318.5

p.E903K

c.2707G>A

1 paper

NM_139318.5

p.P884S

c.2650C>T

2 papers

NM_139318.5

p.R874H

c.2621G>A