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

5 papers

NM_000238.4

p.P596H

c.1787C>A

Surrounding Variants

9 papers

NM_000238.4

p.P596L

c.1787C>T

14 papers

NM_000238.4

p.P596R

c.1787C>G

6 papers

NM_000238.4

p.P596S

c.1786C>T

3 papers

NM_000238.4

p.P596A

c.1786C>G

8 papers

NM_000238.4

p.P596T

c.1786C>A

1 paper

NM_000238.4

p.P596fs

c.1786_1787fs

1 paper

NM_000238.4

p.Y597_N598ins4

c.1789_1793ins12

1 paper

NM_000238.4

p.Y597D

c.1789T>G

5 papers

NM_000238.4

p.Y597H

c.1789T>C

1 paper

NM_000238.4

p.Y597N

c.1789T>A

9 papers

NM_000238.4

p.K595N

c.1785A>T

9 papers

NM_000238.4

p.K595N

c.1785A>C