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

1 paper

NM_033272.4

p.S1148C

c.3442A>T

Surrounding Variants

1 paper

NM_033272.4

p.L1150F

c.3448C>T

1 paper

NM_033272.4

p.L1156L

c.3468G>C

1 paper

NM_033272.4

p.R1157Q

c.3470G>A

1 paper

NM_033272.4

p.T1161T

c.3483T>C

1 paper

NM_033272.4

p.T1134I

c.3401C>T

1 paper

NM_033272.4

p.S1189C

c.3566C>G

2 papers

NM_033272.4

p.K1098R

c.3293A>G

1 paper

NM_033272.4

p.A1070fs

c.3208_3209fs

1 paper

NM_033272.4

p.T1051N

c.3152C>A

2 papers

NM_033272.4

p.D1025E

c.3075C>G

2 papers

NM_033272.4

p.D1025E

c.3075C>A

1 paper

NM_033272.4

p.S1024S

c.3072C>T