Varaico: Literature-Extracted Genetic Variants

KCNH7

119 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

PAS_9aa 29–134UCSCPAS domain

Ion_transaa 407–674UCSCIon transport protein

cNMP_bindingaa 763–848UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 7

HGNC Alias Symbols

Kv11.3; HERG3; erg3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_033272.4

p.D1025E

c.3075C>A

Surrounding Variants

2 papers

NM_033272.4

p.D1025E

c.3075C>G

1 paper

NM_033272.4

p.S1024S

c.3072C>T

2 papers

NM_033272.4

p.E1023K

c.3067G>A

1 paper

NM_033272.4

p.S1010C

c.3029C>G

1 paper

NM_033272.4

p.D1006G

c.3017A>G

1 paper

NM_033272.4

p.D988Splc

c.2963-156C>T

1 paper

NM_033272.4

p.G975R

c.2923G>C

1 paper

NM_033272.4

p.G975R

c.2923G>A

1 paper

NM_033272.4

p.D966N

c.2896G>A

1 paper

NM_033272.4

p.L965P

c.2894T>C

1 paper

NM_033272.4

p.A962V

c.2885C>T

1 paper

NM_033272.4

p.G960E

c.2879G>A