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

1 paper

NM_000238.4

p.P426A

c.1276C>G

Surrounding Variants

1 paper

NM_000238.4

p.P426fs

c.1276_1277fs

5 papers

NM_000238.4

p.P426L

c.1277C>T

9 papers

NM_000238.4

p.P426H

c.1277C>A

1 paper

NM_000238.4

p.T425_P426delFs

c.1275_1276delGT

1 paper

NM_000238.4

p.T425R

c.1274C>G

6 papers

NM_000238.4

p.Y427H

c.1279T>C

1 paper

NM_000238.4

p.T425A

c.1273A>G

9 papers

NM_000238.4

p.Y427C

c.1280A>G

8 papers

NM_000238.4

p.Y427S

c.1280A>C

2 papers

NM_000238.4

p.Y427*

c.1281C>G

2 papers

NM_000238.4

p.Y427*

c.1281C>A

2 papers

NM_000238.4

p.S428A

c.1282T>G