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.G1036delFs

c.3107delC

Surrounding Variants

1 paper

NM_000238.4

p.G1036G

c.3108C>T

6 papers

NM_000238.4

p.G1036insFs

c.3107dupG

4 papers

NM_000238.4

p.G1036fs

c.3106_3107fs

1 paper

NM_000238.4

p.D1037insFs

c.3109_3110ins4

19 papers

NM_000238.4

p.G1036D

c.3107G>A

1 paper

NM_000238.4

p.D1037N

c.3109G>A

2 papers

NM_000238.4

p.G1031_G1036delFs

c.3093_3106del14

4 papers

NM_000238.4

p.P1034_G1036delFs

c.3101_3108del8

4 papers

NM_000238.4

p.D1037fs

c.3109_3110fs

2 papers

NM_000238.4

p.G1036fs

c.3106_3107fs

3 papers

NM_000238.4

p.D1037V

c.3110A>T

2 papers

NM_000238.4

p.G1036_D1037insFs

c.3106_3109dup4