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.R894C

c.2680C>T

Surrounding Variants

1 paper

NM_000238.4

p.R893_R894Fs

c.2678_2680delinsCTFs

1 paper

NM_000238.4

p.R892_R893delFs

c.2675_2679del5

2 papers

NM_000238.4

p.R894fs

c.2680_2681fs

1 paper

NM_000238.4

p.R894insFs

c.2681_2682ins4

2 papers

NM_000238.4

p.R892_R894insFs

c.2676_2680dup5

1 paper

NM_000238.4

p.R894P

c.2681G>C

2 papers

NM_000238.4

p.R894H

c.2681G>A

1 paper

NM_000238.4

p.R893_R894ins0

c.2679_2681dupGCG

1 paper

NM_000238.4

p.R893fs

c.2677_2678fs

5 papers

NM_000238.4

p.T895A

c.2683A>G

1 paper

NM_000238.4

p.R893_R894insA

c.2677_2681ins3

10 papers

NM_000238.4

p.T895M

c.2684C>T