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

4 papers

NM_000238.4

p.D411Y

c.1231G>T

NM_172057.3

p.D71Y

c.211G>T

Surrounding Variants

5 papers

NM_000238.4

p.D411N

c.1231G>A

2 papers

NM_000238.4

p.D411fs

c.1231_1232fs

3 papers

NM_000238.4

p.W410*

c.1230G>A

1 paper

NM_000238.4

p.D411V

c.1232A>T

3 papers

NM_000238.4

p.D411A

c.1232A>C

10 papers

NM_000238.4

p.W410S

c.1229G>C

3 papers

NM_000238.4

p.W410*

c.1229G>A

3 papers

NM_000238.4

p.W412R

c.1234T>C

3 papers

NM_000238.4

p.W410R

c.1228T>C

3 papers

NM_000238.4

p.W412R

c.1234T>A

2 papers

NM_000238.4

p.W410R

c.1228T>A

2 papers

NM_000238.4

p.D411_W412delins

c.1232_1234delinsTTTGAA