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

7 papers

NM_000238.4

p.E229*

c.685G>T

Surrounding Variants

3 papers

NM_000238.4

p.E229K

c.685G>A

2 papers

NM_000238.4

p.E229V

c.686A>T

1 paper

NM_000238.4

p.E229D

c.687G>T

1 paper

NM_000238.4

p.E229D

c.687G>C

5 papers

NM_000238.4

p.A228V

c.683C>T

2 papers

NM_000238.4

p.A228S

c.682G>T

3 papers

NM_000238.4

p.A228P

c.682G>C

1 paper

NM_000238.4

p.A228T

c.682G>A

1 paper

NM_000238.4

p.P227R

c.680C>G

2 papers

NM_000238.4

p.P227H

c.680C>A

1 paper

NM_000238.4

p.R231W

c.691C>T

1 paper

NM_000238.4

p.P227S

c.679C>T