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

1 paper

NM_000238.4

p.R252fs

c.754_755fs

Surrounding Variants

3 papers

NM_000238.4

p.R252W

c.754C>T

7 papers

NM_000238.4

p.R252G

c.754C>G

1 paper

NM_000238.4

p.R252P

c.755G>C

3 papers

NM_000238.4

p.R252Q

c.755G>A

1 paper

NM_000238.4

p.R252delFs

c.754delG

2 papers

NM_000238.4

p.P251L

c.752C>T

7 papers

NM_000238.4

p.P251S

c.751C>T

3 papers

NM_000238.4

p.P251A

c.751C>G

2 papers

NM_000238.4

p.S250_P251delins

c.750_751delinsCT

1 paper

NM_000238.4

p.A253V

c.758C>T

2 papers

NM_000238.4

p.A253G

c.758C>G

1 paper

NM_000238.4

p.S250L

c.749C>T