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

3 papers

NM_000238.4

p.Y611*

c.1833T>G

Surrounding Variants

3 papers

NM_000238.4

p.Y611*

c.1833T>A

22 papers

NM_000238.4

p.V612L

c.1834G>T

21 papers

NM_000238.4

p.V612L

c.1834G>C

3 papers

NM_000238.4

p.V612M

c.1834G>A

4 papers

NM_000238.4

p.Y611F

c.1832A>T

4 papers

NM_000238.4

p.Y611C

c.1832A>G

9 papers

NM_000238.4

p.Y611D

c.1831T>G

1 paper

NM_000238.4

p.V612G

c.1835T>G

39 papers

NM_000238.4

p.Y611H

c.1831T>C

5 papers

NM_000238.4

p.V612A

c.1835T>C

1 paper

NM_000238.4

p.Y611N

c.1831T>A

4 papers

NM_000238.4

p.K610N

c.1830G>T