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.S606A

c.1816T>G

Surrounding Variants

9 papers

NM_000238.4

p.S606P

c.1816T>C

2 papers

NM_000238.4

p.P605delFs

c.1815delG

7 papers

NM_000238.4

p.S606F

c.1817C>T

1 paper

NM_000238.4

p.S606C

c.1817C>G

1 paper

NM_000238.4

p.L602_S606Fs

c.1804_1817delinsAAGTATGTATFs

8 papers

NM_000238.4

p.P605L

c.1814C>T

2 papers

NM_000238.4

p.S606fs

c.1816_1817fs

1 paper

NM_000238.4

p.P605H

c.1814C>A

6 papers

NM_000238.4

p.P605S

c.1813C>T

3 papers

NM_000238.4

p.I607F

c.1819A>T

1 paper

NM_000238.4

p.I607V

c.1819A>G

1 paper

NM_000238.4

p.I607L

c.1819A>C