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.Y427*

c.1281C>A

Surrounding Variants

2 papers

NM_000238.4

p.Y427*

c.1281C>G

2 papers

NM_000238.4

p.S428A

c.1282T>G

5 papers

NM_000238.4

p.S428P

c.1282T>C

1 paper

NM_000238.4

p.Y427delFs

c.1280_1281delGT

1 paper

NM_000238.4

p.S428fs

c.1282_1283fs

9 papers

NM_000238.4

p.Y427C

c.1280A>G

8 papers

NM_000238.4

p.Y427S

c.1280A>C

6 papers

NM_000238.4

p.Y427H

c.1279T>C

18 papers

NM_000238.4

p.S428L

c.1283C>T

11 papers

NM_000238.4

p.S428*

c.1283C>A

1 paper

NM_000238.4

p.Y427del1

c.1279_1280delGTA

2 papers

NM_000238.4

p.S428fs

c.1282_1283fs