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.L839P

c.2516T>C

Surrounding Variants

1 paper

NM_139318.5

p.N856H

c.2566A>C

2 papers

NM_139318.5

p.N817S

c.2450A>G

1 paper

NM_139318.5

p.D862H

c.2584G>C

1 paper

NM_139318.5

p.D862N

c.2584G>A

1 paper

NM_139318.5

p.L812M

c.2434C>A

1 paper

NM_139318.5

p.G808V

c.2423G>T

1 paper

NM_139318.5

p.R874C

c.2620C>T

2 papers

NM_139318.5

p.R874H

c.2621G>A

1 paper

NM_139318.5

p.P884S

c.2650C>T

1 paper

NM_139318.5

p.G789V

c.2366G>T

1 paper

NM_139318.5

p.G789C

c.2365G>T

1 paper

NM_139318.5

p.E903K

c.2707G>A