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.R73G

c.217C>G

Surrounding Variants

1 paper

NM_000238.4

p.R73C

c.217C>T

1 paper

NM_000238.4

p.R73S

c.217C>A

11 papers

NM_000238.4

p.P72L

c.215C>T

8 papers

NM_000238.4

p.P72R

c.215C>G

3 papers

NM_000238.4

p.R73fs

c.217_218fs

11 papers

NM_000238.4

p.P72Q

c.215C>A

1 paper

NM_000238.4

p.P72delins

c.214_215delinsGG

3 papers

NM_000238.4

p.T74fs

c.220_221fs

4 papers

NM_000238.4

p.P72S

c.214C>T

5 papers

NM_000238.4

p.P72T

c.214C>A

6 papers

NM_000238.4

p.T74A

c.220A>G

5 papers

NM_000238.4

p.T74P

c.220A>C