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

3 papers

NM_000238.4

p.L530L

c.1588C>T

Surrounding Variants

2 papers

NM_000238.4

p.L530P

c.1589T>C

1 paper

NM_000238.4

p.L530Q

c.1589T>A

2 papers

NM_000238.4

p.L529P

c.1586T>C

1 paper

NM_000238.4

p.L529Q

c.1586T>A

17 papers

NM_000238.4

p.R531W

c.1591C>T

1 paper

NM_000238.4

p.L529M

c.1585C>A

1 paper

NM_001204798.2

p.R188delFs

c.563_564delCC

1 paper

NM_000238.4

p.R531P

c.1592G>C

15 papers

NM_000238.4

p.R531Q

c.1592G>A

11 papers

NM_000238.4

p.R528P

c.1583G>C

7 papers

NM_000238.4

p.R528Q

c.1583G>A

1 paper

NM_000238.4

p.R528fs

c.1582_1583fs