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

5 papers

NM_000238.4

p.E50*

c.148G>T

Surrounding Variants

2 papers

NM_000238.4

p.E50Q

c.148G>C

2 papers

NM_000238.4

p.E50K

c.148G>A

2 papers

NM_000238.4

p.E50fs

c.148_149fs

4 papers

NM_000238.4

p.C49W

c.147C>G

1 paper

NM_000238.4

p.E50V

c.149A>T

2 papers

NM_000238.4

p.E50G

c.149A>G

1 paper

NM_000238.4

p.E50A

c.149A>C

3 papers

NM_000238.4

p.E50delFs

c.148delC

19 papers

NM_000238.4

p.E50D

c.150G>T

3 papers

NM_000238.4

p.C49F

c.146G>T

1 paper

NM_000238.4

p.E50fs

c.148_149fs

19 papers

NM_000238.4

p.E50D

c.150G>C