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

2 papers

NM_000238.4

p.R271H

c.812G>A

Surrounding Variants

1 paper

NM_000238.4

p.R271C

c.811C>T

2 papers

NM_000238.4

p.S272P

c.814T>C

1 paper

NM_000238.4

p.S272T

c.814T>A

1 paper

NM_000238.4

p.S272F

c.815C>T

1 paper

NM_000238.4

p.T270M

c.809C>T

3 papers

NM_000238.4

p.R273*

c.817C>T

2 papers

NM_000238.4

p.R273G

c.817C>G

1 paper

NM_000238.4

p.R273fs

c.817_818fs

10 papers

NM_000238.4

p.R273Q

c.818G>A

1 paper

NM_000238.4

p.R269Q

c.806G>A

1 paper

NM_000238.4

p.R273delFs

c.817delG

6 papers

NM_000238.4

p.R269W

c.805C>T