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

3 papers

NM_000238.4

p.S26C

c.76A>T

Surrounding Variants

1 paper

NM_000238.4

p.S26Splc

c.77-1G>T

1 paper

NM_000238.4

p.S26Splc

c.77-1G>A

4 papers

NM_000238.4

p.S26G

c.76A>G

2 papers

NM_000238.4

p.S26R

c.76A>C

16 papers

NM_000238.4

p.S26I

c.77G>T

2 papers

NM_000238.4

p.S26T

c.77G>C

2 papers

NM_000238.4

p.S26N

c.77G>A

1 paper

NM_000238.4

p.S26Splc

c.77-3T>C

2 papers

NM_000238.4

p.S26R

c.78C>G

2 papers

NM_000238.4

p.S26R

c.78C>A

1 paper

NM_000238.4

p.S26delins

c.77_78delinsTT

1 paper

NM_000238.4

p.S26delins

c.77_78delinsTA