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

6 papers

NM_000238.4

p.I31T

c.92T>C

Surrounding Variants

22 papers

NM_000238.4

p.I31S

c.92T>G

5 papers

NM_000238.4

p.I31N

c.92T>A

3 papers

NM_000238.4

p.I31M

c.93C>G

3 papers

NM_000238.4

p.I31F

c.91A>T

2 papers

NM_000238.4

p.I31V

c.91A>G

2 papers

NM_000238.4

p.I31L

c.91A>C

2 papers

NM_000238.4

p.A32S

c.94G>T

1 paper

NM_000238.4

p.I31insFs

c.93dupC

3 papers

NM_000238.4

p.A32P

c.94G>C

8 papers

NM_000238.4

p.A32T

c.94G>A

2 papers

NM_000238.4

p.I30del1

c.88_89delGAT

2 papers

NM_000238.4

p.I30M

c.90C>G