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.A453S

c.1357G>T

Surrounding Variants

1 paper

NM_000238.4

p.A453fs

c.1357_1358fs

2 papers

NM_000238.4

p.A453T

c.1357G>A

1 paper

NM_000238.4

p.A453Fs

c.1357_1359delinsCFs

1 paper

NM_000238.4

p.A453delFs

c.1359delA

2 papers

NM_000238.4

p.V454fs

c.1360_1361fs

1 paper

NM_000238.4

p.V454delFs

c.1360delC

12 papers

NM_000238.4

p.P451L

c.1352C>T

1 paper

NM_000238.4

p.L452_V454del3

c.1354_1361del9

18 papers

NM_000238.4

p.D456Y

c.1366G>T

4 papers

NM_000238.4

p.Q450*

c.1348C>T

8 papers

NM_000238.4

p.D456A

c.1367A>C

1 paper

NM_000238.4

p.C449S

c.1346G>C