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.H831P

c.2492A>C

Surrounding Variants

1 paper

NM_000238.4

p.H831R

c.2492A>G

1 paper

NM_000238.4

p.H831fs

c.2491_2492fs

5 papers

NM_000238.4

p.K832*

c.2494A>T

1 paper

NM_000238.4

p.L830_H831insFs

c.2490_2491insT

3 papers

NM_172057.3

p.D489D

c.1467C>T

1 paper

NM_000238.4

p.I833M

c.2499C>G

2 papers

NM_000238.4

p.C828W

c.2484T>G

2 papers

NM_000238.4

p.C828S

c.2483G>C

3 papers

NM_000238.4

p.C828Y

c.2483G>A

1 paper

NM_000238.4

p.C828G

c.2482T>G

2 papers

NM_000238.4

p.C828S

c.2482T>A

5 papers

NM_000238.4

p.R835W

c.2503C>T