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.R863P

c.2588G>C

Surrounding Variants

6 papers

NM_000238.4

p.R863Q

c.2588G>A

35 papers

NM_000238.4

p.R863*

c.2587C>T

1 paper

NM_000238.4

p.L862P

c.2585T>C

3 papers

NM_000238.4

p.D864G

c.2591A>G

8 papers

NM_000238.4

p.D864_T865Splc

c.2592+1G>A

15 papers

NM_000238.4

p.N861I

c.2582A>T

3 papers

NM_000238.4

p.D864_T865Splc

c.2592+3G>A

7 papers

NM_000238.4

p.N861H

c.2581A>C

1 paper

NM_000238.4

p.F860L

c.2580C>G

1 paper

NM_000238.4

p.F860L

c.2580C>A

2 papers

NM_000238.4

p.F860C

c.2579T>G

1 paper

NM_000238.4

p.F860Y

c.2579T>A