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

2 papers

NM_000238.4

p.W568*

c.1704G>A

Surrounding Variants

11 papers

NM_000238.4

p.W568C

c.1704G>T

13 papers

NM_000238.4

p.W568C

c.1704G>C

1 paper

NM_000238.4

p.Y569_A570ins9

c.1705_1709ins27

11 papers

NM_000238.4

p.Y569H

c.1705T>C

3 papers

NM_000238.4

p.I560_W568del9

c.1678_1703del27

7 papers

NM_000238.4

p.W568L

c.1703G>T

3 papers

NM_000238.4

p.W568S

c.1703G>C

2 papers

NM_000238.4

p.W568*

c.1703G>A

8 papers

NM_000238.4

p.W568R

c.1702T>C

8 papers

NM_000238.4

p.W568R

c.1702T>A

1 paper

NM_000238.4

p.I567delFs

c.1701delG

2 papers

NM_000238.4

p.W568fs

c.1702_1703fs