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

8 papers

NM_000238.4

p.R366Q

c.1097G>A

Surrounding Variants

3 papers

NM_000238.4

p.R366P

c.1097G>C

21 papers

NM_000238.4

p.R366*

c.1096C>T

1 paper

NM_000238.4

p.E365E

c.1095G>A

3 papers

NM_000238.4

p.T367S

c.1099A>T

2 papers

NM_000238.4

p.T367A

c.1099A>G

3 papers

NM_000238.4

p.T367S

c.1100C>G

1 paper

NM_000238.4

p.E365G

c.1094A>G

1 paper

NM_000238.4

p.E365*

c.1093G>T

1 paper

NM_000238.4

p.K364fs

c.1090_1091fs

1 paper

NM_000238.4

p.K364_H368delins

c.1091_1102delinsAGGAGCGAACCC

1 paper

NM_000238.4

p.K364fs

c.1090_1091fs

1 paper

NM_000238.4

p.K364E

c.1090A>G