Varaico: Literature-Extracted Genetic Variants

KCNH2

2,373 papers

RefSeq Summary

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to f...

Pfam Domains

PAS_9aa 29–130UCSCPAS domain

Ion_transaa 407–671UCSCIon transport protein

cNMP_bindingaa 760–845UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 2

HGNC Previous Symbol

LQT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000238.4

p.P1026L

c.3077C>T

Surrounding Variants

1 paper

NM_000238.4

p.I1025I

c.3075C>T

1 paper

NM_000238.4

p.L1027I

c.3079C>A

1 paper

NM_000238.4

p.I1025N

c.3074T>A

1 paper

NM_000238.4

p.L1023L

c.3069C>G

1 paper

NM_000238.4

p.L1023V

c.3067C>G

2 papers

NM_000238.4

p.S1029fs

c.3085_3086fs

1 paper

NM_000238.4

p.P1030T

c.3088C>A

3 papers

NM_000238.4

p.L1022delFs

c.3065delA

1 paper

NM_000238.4

p.P1030L

c.3089C>T

1 paper

NM_000238.4

p.L1022fs

c.3064_3065fs

1 paper

NM_000238.4

p.G1031fs

c.3091_3092fs

1 paper

NM_000238.4

p.S1021fs

c.3061_3062fs